Mutagenetix > Incidental Mutation

Incidental Mutation 'R0141:Lrrc37'

22333

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37

Ensembl Gene

ENSMUSG00000034239

Gene Name

leucine rich repeat containing 37

Synonyms

LOC380730, Gm884

MMRRC Submission

038426-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R0141 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

103425403-103511966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103504512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 2485 (I2485M)

Ref Sequence

ENSEMBL: ENSMUSP00000058511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059279] [ENSMUST00000167262]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059279
AA Change: I2485M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: I2485M

Domain	Start	End	E-Value	Type
Pfam:LRRC37	149	223	5.4e-10	PFAM
low complexity region	244	264	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
Pfam:LRRC37	335	403	1.9e-14	PFAM
Pfam:LRRC37	419	514	1.2e-8	PFAM
Pfam:LRRC37	565	620	2e-10	PFAM
Pfam:LRRC37	669	739	7.6e-18	PFAM
Pfam:LRRC37	741	792	1.6e-9	PFAM
Pfam:LRRC37	789	860	1.4e-23	PFAM
Pfam:LRRC37	861	914	2.8e-9	PFAM
Pfam:LRRC37	911	983	1.9e-23	PFAM
Pfam:LRRC37	979	1038	1e-8	PFAM
Pfam:LRRC37	1034	1105	2.7e-24	PFAM
Pfam:LRRC37	1105	1158	2.3e-9	PFAM
Pfam:LRRC37	1155	1219	2.4e-17	PFAM
Pfam:LRRC37	1222	1265	9.2e-7	PFAM
Pfam:LRRC37	1263	1330	4.9e-24	PFAM
Pfam:LRRC37	1331	1384	1.4e-10	PFAM
Pfam:LRRC37	1380	1451	4.3e-15	PFAM
Pfam:LRRC37	1487	1558	1.9e-15	PFAM
Pfam:LRRC37	1594	1665	2.9e-18	PFAM
Pfam:LRRC37	1701	1772	5.6e-23	PFAM
Pfam:LRRC37	1808	1910	2.8e-18	PFAM
Pfam:LRRC37	1915	1986	7.2e-17	PFAM
Pfam:LRRC37	2022	2093	4.9e-22	PFAM
Pfam:LRRC37	2129	2200	4.4e-22	PFAM
Pfam:LRRC37	2236	2307	2.1e-21	PFAM
Pfam:LRRC37	2343	2414	3.8e-17	PFAM
Pfam:LRRC37	2449	2519	1.6e-19	PFAM
LRR	2777	2796	3.09e1	SMART
LRR_TYP	2797	2820	2.09e-3	SMART
LRR	2821	2844	4.44e0	SMART
LRR	2848	2872	8.26e1	SMART
low complexity region	2991	3002	N/A	INTRINSIC
low complexity region	3220	3230	N/A	INTRINSIC
low complexity region	3382	3393	N/A	INTRINSIC
Pfam:LRRC37AB_C	3424	3570	7.7e-76	PFAM
low complexity region	3571	3589	N/A	INTRINSIC
low complexity region	3622	3640	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167262
AA Change: I309M

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239
AA Change: I309M

Domain	Start	End	E-Value	Type
internal_repeat_1	1	70	1.46e-11	PROSPERO
internal_repeat_1	108	290	1.46e-11	PROSPERO
LRR	601	620	3.09e1	SMART
LRR_TYP	621	644	2.09e-3	SMART
LRR	645	668	4.44e0	SMART
LRR	672	696	8.26e1	SMART
low complexity region	815	826	N/A	INTRINSIC
low complexity region	1044	1054	N/A	INTRINSIC
low complexity region	1206	1217	N/A	INTRINSIC
Pfam:LRRC37AB_C	1243	1396	1.2e-92	PFAM
low complexity region	1446	1464	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 89.9%

Validation Efficiency

88% (50/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	C	13: 91,919,947 (GRCm39)	D294A	probably benign	Het
Adamts9	T	C	6: 92,920,066 (GRCm39)	D24G	probably benign	Het
Ahnak	G	A	19: 8,984,044 (GRCm39)	G1776D	probably damaging	Het
Arfgef3	C	A	10: 18,473,155 (GRCm39)	C1636F	probably damaging	Het
AW551984	A	G	9: 39,501,940 (GRCm39)	L722P	probably damaging	Het
Ccndbp1	T	A	2: 120,842,903 (GRCm39)	M188K	probably damaging	Het
Col27a1	A	T	4: 63,183,870 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,616,095 (GRCm39)	Y306H	probably damaging	Het
Cyp3a57	A	G	5: 145,298,912 (GRCm39)	I71V	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dmrt2	A	T	19: 25,655,655 (GRCm39)	Q418L	possibly damaging	Het
Ebf1	T	C	11: 44,798,827 (GRCm39)	L284S	probably damaging	Het
Fam131a	G	A	16: 20,517,738 (GRCm39)	A15T	probably benign	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fer1l6	A	G	15: 58,430,251 (GRCm39)	E226G	probably damaging	Het
Galnt18	A	T	7: 111,198,238 (GRCm39)	I174N	probably damaging	Het
Gm44501	T	C	17: 40,889,744 (GRCm39)	I86T	probably benign	Het
Gtsf1l	T	C	2: 162,929,246 (GRCm39)	Q79R	probably benign	Het
Hapln4	T	C	8: 70,540,930 (GRCm39)	L321P	probably damaging	Het
Herc2	A	G	7: 55,771,309 (GRCm39)	T1024A	probably benign	Het
Hps5	A	G	7: 46,438,605 (GRCm39)	S43P	probably damaging	Het
Igsf10	A	G	3: 59,238,253 (GRCm39)	Y643H	probably damaging	Het
Lama4	G	A	10: 38,968,274 (GRCm39)	R1472H	probably benign	Het
Lhx9	A	G	1: 138,767,744 (GRCm39)	Y73H	possibly damaging	Het
Loxl1	T	A	9: 58,219,415 (GRCm39)	Q252L	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nr3c2	T	A	8: 77,635,037 (GRCm39)	V46D	probably damaging	Het
Or11h4	T	C	14: 50,973,840 (GRCm39)	S260G	possibly damaging	Het
Or4k77	T	A	2: 111,199,835 (GRCm39)	I286N	probably damaging	Het
Or5i1	C	G	2: 87,613,049 (GRCm39)	P55R	possibly damaging	Het
Or5p63	A	C	7: 107,811,210 (GRCm39)	N175K	possibly damaging	Het
Or5p70	A	T	7: 107,994,575 (GRCm39)	N83Y	probably benign	Het
Osbp	T	C	19: 11,951,223 (GRCm39)	V256A	possibly damaging	Het
Pclo	A	T	5: 14,841,936 (GRCm39)	D4737V	unknown	Het
Pkdrej	A	G	15: 85,699,831 (GRCm39)	I2035T	probably damaging	Het
Plek2	A	G	12: 78,941,278 (GRCm39)	S185P	probably damaging	Het
Pnpla6	G	T	8: 3,582,117 (GRCm39)		probably null	Het
Pou3f2	T	C	4: 22,487,210 (GRCm39)	T308A	possibly damaging	Het
Pramel22	T	C	4: 143,381,138 (GRCm39)	Y295C	probably benign	Het
Pxmp4	A	G	2: 154,434,215 (GRCm39)	V82A	probably damaging	Het
Rnf6	A	T	5: 146,148,645 (GRCm39)	N135K	possibly damaging	Het
Rtl1	A	G	12: 109,559,382 (GRCm39)	V819A	probably damaging	Het
Scn1a	C	A	2: 66,119,406 (GRCm39)	V1355L	probably damaging	Het
Scn2a	T	A	2: 65,542,160 (GRCm39)	N754K	probably benign	Het
Serpina3b	A	T	12: 104,097,030 (GRCm39)	N104Y	probably damaging	Het
Sh3rf2	T	C	18: 42,289,122 (GRCm39)	S648P	probably benign	Het
Slc17a6	G	A	7: 51,318,815 (GRCm39)	V486I	probably benign	Het
Spata31e2	A	T	1: 26,722,863 (GRCm39)	N772K	probably benign	Het
Syne2	T	G	12: 75,988,072 (GRCm39)	D1743E	probably damaging	Het
Tex14	T	G	11: 87,383,857 (GRCm39)		probably null	Het
Tfb1m	T	C	17: 3,605,232 (GRCm39)	D87G	probably damaging	Het
Tll2	C	T	19: 41,086,351 (GRCm39)	G609S	probably damaging	Het
Tsc22d2	A	T	3: 58,324,577 (GRCm39)		probably benign	Het
Tsen2	A	G	6: 115,545,790 (GRCm39)	D360G	probably damaging	Het
Ugt2b37	G	A	5: 87,388,842 (GRCm39)	P457L	probably damaging	Het
Vmn1r68	T	C	7: 10,261,252 (GRCm39)	N282S	possibly damaging	Het
Vmn2r58	G	A	7: 41,511,309 (GRCm39)	S498F	probably benign	Het
Zfp959	T	C	17: 56,205,139 (GRCm39)	I392T	probably benign	Het

Other mutations in Lrrc37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Lrrc37	APN	11	103,506,236 (GRCm39)	missense	probably benign	0.01
IGL00576:Lrrc37	APN	11	103,508,212 (GRCm39)	unclassified	probably benign
IGL00813:Lrrc37	APN	11	103,505,324 (GRCm39)	missense	probably benign	0.05
IGL01311:Lrrc37	APN	11	103,425,502 (GRCm39)	missense	unknown
IGL01946:Lrrc37	APN	11	103,503,759 (GRCm39)	missense	probably benign	0.28
IGL02217:Lrrc37	APN	11	103,503,697 (GRCm39)	splice site	probably benign
IGL02556:Lrrc37	APN	11	103,504,109 (GRCm39)	missense	probably benign	0.01
IGL02825:Lrrc37	APN	11	103,507,894 (GRCm39)	unclassified	probably benign
IGL02868:Lrrc37	APN	11	103,505,965 (GRCm39)	missense	probably benign	0.10
IGL02904:Lrrc37	APN	11	103,507,187 (GRCm39)	unclassified	probably benign
IGL03008:Lrrc37	APN	11	103,511,293 (GRCm39)	missense	unknown
IGL03120:Lrrc37	APN	11	103,507,801 (GRCm39)	unclassified	probably benign
IGL03159:Lrrc37	APN	11	103,495,328 (GRCm39)	splice site	probably benign
IGL03181:Lrrc37	APN	11	103,507,242 (GRCm39)	unclassified	probably benign
IGL03202:Lrrc37	APN	11	103,506,199 (GRCm39)	missense	probably benign	0.03
IGL03263:Lrrc37	APN	11	103,504,525 (GRCm39)	missense	possibly damaging	0.86
esteemed	UTSW	11	103,509,656 (GRCm39)	missense	unknown
lauded	UTSW	11	103,503,929 (GRCm39)	missense	possibly damaging	0.62
PIT4486001:Lrrc37	UTSW	11	103,509,027 (GRCm39)	missense	unknown
R0040:Lrrc37	UTSW	11	103,433,816 (GRCm39)	missense	probably damaging	0.99
R0135:Lrrc37	UTSW	11	103,508,873 (GRCm39)	unclassified	probably benign
R0226:Lrrc37	UTSW	11	103,494,067 (GRCm39)	missense	probably benign	0.08
R0547:Lrrc37	UTSW	11	103,510,990 (GRCm39)	missense	unknown
R0646:Lrrc37	UTSW	11	103,503,986 (GRCm39)	nonsense	probably null
R0685:Lrrc37	UTSW	11	103,507,714 (GRCm39)	unclassified	probably benign
R0732:Lrrc37	UTSW	11	103,510,664 (GRCm39)	missense	unknown
R1015:Lrrc37	UTSW	11	103,436,622 (GRCm39)	missense	probably benign	0.01
R1166:Lrrc37	UTSW	11	103,506,209 (GRCm39)	missense	probably benign	0.21
R1168:Lrrc37	UTSW	11	103,509,776 (GRCm39)	unclassified	probably benign
R1257:Lrrc37	UTSW	11	103,425,467 (GRCm39)	missense	unknown
R1545:Lrrc37	UTSW	11	103,499,745 (GRCm39)	missense	probably benign	0.16
R1570:Lrrc37	UTSW	11	103,500,764 (GRCm39)	missense	possibly damaging	0.76
R1677:Lrrc37	UTSW	11	103,505,768 (GRCm39)	missense	probably benign	0.19
R1703:Lrrc37	UTSW	11	103,431,700 (GRCm39)	missense	probably benign	0.39
R1719:Lrrc37	UTSW	11	103,507,897 (GRCm39)	unclassified	probably benign
R1752:Lrrc37	UTSW	11	103,505,381 (GRCm39)	missense	possibly damaging	0.67
R1870:Lrrc37	UTSW	11	103,511,431 (GRCm39)	missense	unknown
R2155:Lrrc37	UTSW	11	103,511,285 (GRCm39)	missense	unknown
R2191:Lrrc37	UTSW	11	103,509,793 (GRCm39)	unclassified	probably benign
R2271:Lrrc37	UTSW	11	103,505,033 (GRCm39)	missense	possibly damaging	0.53
R2378:Lrrc37	UTSW	11	103,510,537 (GRCm39)	unclassified	probably benign
R2405:Lrrc37	UTSW	11	103,511,810 (GRCm39)	missense	unknown
R2864:Lrrc37	UTSW	11	103,431,744 (GRCm39)	missense	probably benign	0.34
R3011:Lrrc37	UTSW	11	103,503,929 (GRCm39)	missense	possibly damaging	0.62
R3415:Lrrc37	UTSW	11	103,505,435 (GRCm39)	missense	possibly damaging	0.82
R3417:Lrrc37	UTSW	11	103,505,435 (GRCm39)	missense	possibly damaging	0.82
R3835:Lrrc37	UTSW	11	103,510,836 (GRCm39)	missense	unknown
R3974:Lrrc37	UTSW	11	103,509,927 (GRCm39)	unclassified	probably benign
R4019:Lrrc37	UTSW	11	103,506,119 (GRCm39)	missense	probably benign	0.19
R4020:Lrrc37	UTSW	11	103,506,119 (GRCm39)	missense	probably benign	0.19
R4176:Lrrc37	UTSW	11	103,427,426 (GRCm39)	missense	unknown
R4361:Lrrc37	UTSW	11	103,508,327 (GRCm39)	frame shift	probably null
R4418:Lrrc37	UTSW	11	103,509,140 (GRCm39)	unclassified	probably benign
R4633:Lrrc37	UTSW	11	103,509,957 (GRCm39)	unclassified	probably benign
R4693:Lrrc37	UTSW	11	103,510,686 (GRCm39)	missense	unknown
R4758:Lrrc37	UTSW	11	103,505,290 (GRCm39)	missense	possibly damaging	0.48
R4878:Lrrc37	UTSW	11	103,508,717 (GRCm39)	unclassified	probably benign
R4887:Lrrc37	UTSW	11	103,505,698 (GRCm39)	missense	probably benign	0.03
R4944:Lrrc37	UTSW	11	103,504,286 (GRCm39)	missense	possibly damaging	0.68
R4952:Lrrc37	UTSW	11	103,505,033 (GRCm39)	missense	possibly damaging	0.53
R5030:Lrrc37	UTSW	11	103,425,675 (GRCm39)	missense	unknown
R5183:Lrrc37	UTSW	11	103,433,947 (GRCm39)	missense	probably damaging	0.99
R5294:Lrrc37	UTSW	11	103,507,057 (GRCm39)	unclassified	probably benign
R5317:Lrrc37	UTSW	11	103,504,971 (GRCm39)	missense	possibly damaging	0.73
R5334:Lrrc37	UTSW	11	103,504,699 (GRCm39)	missense	probably benign	0.18
R5426:Lrrc37	UTSW	11	103,511,586 (GRCm39)	missense	unknown
R5467:Lrrc37	UTSW	11	103,494,091 (GRCm39)	nonsense	probably null
R5518:Lrrc37	UTSW	11	103,506,079 (GRCm39)	missense	probably benign	0.03
R5634:Lrrc37	UTSW	11	103,432,840 (GRCm39)	missense	possibly damaging	0.95
R5647:Lrrc37	UTSW	11	103,508,300 (GRCm39)	unclassified	probably benign
R5663:Lrrc37	UTSW	11	103,503,949 (GRCm39)	missense	probably benign	0.01
R5668:Lrrc37	UTSW	11	103,507,880 (GRCm39)	unclassified	probably benign
R5763:Lrrc37	UTSW	11	103,504,469 (GRCm39)	missense	probably damaging	0.97
R5829:Lrrc37	UTSW	11	103,432,712 (GRCm39)	missense	possibly damaging	0.95
R5871:Lrrc37	UTSW	11	103,507,280 (GRCm39)	unclassified	probably benign
R5905:Lrrc37	UTSW	11	103,505,081 (GRCm39)	missense	probably damaging	0.98
R5940:Lrrc37	UTSW	11	103,504,712 (GRCm39)	missense	probably benign	0.18
R5964:Lrrc37	UTSW	11	103,432,946 (GRCm39)	missense	possibly damaging	0.92
R5988:Lrrc37	UTSW	11	103,506,722 (GRCm39)	unclassified	probably benign
R5992:Lrrc37	UTSW	11	103,504,618 (GRCm39)	missense	possibly damaging	0.81
R6114:Lrrc37	UTSW	11	103,508,617 (GRCm39)	unclassified	probably benign
R6154:Lrrc37	UTSW	11	103,504,969 (GRCm39)	missense	probably benign	0.33
R6233:Lrrc37	UTSW	11	103,504,214 (GRCm39)	missense	probably damaging	0.98
R6301:Lrrc37	UTSW	11	103,509,756 (GRCm39)	unclassified	probably benign
R6362:Lrrc37	UTSW	11	103,511,478 (GRCm39)	missense	unknown
R6471:Lrrc37	UTSW	11	103,510,448 (GRCm39)	unclassified	probably benign
R6806:Lrrc37	UTSW	11	103,511,950 (GRCm39)	missense	unknown
R6962:Lrrc37	UTSW	11	103,505,126 (GRCm39)	missense	possibly damaging	0.67
R6996:Lrrc37	UTSW	11	103,509,583 (GRCm39)	nonsense	probably null
R7028:Lrrc37	UTSW	11	103,505,363 (GRCm39)	missense	probably benign	0.28
R7034:Lrrc37	UTSW	11	103,506,638 (GRCm39)	unclassified	probably benign
R7036:Lrrc37	UTSW	11	103,506,638 (GRCm39)	unclassified	probably benign
R7113:Lrrc37	UTSW	11	103,509,625 (GRCm39)	missense	unknown
R7405:Lrrc37	UTSW	11	103,505,987 (GRCm39)	missense	probably benign	0.02
R7420:Lrrc37	UTSW	11	103,504,451 (GRCm39)	missense	probably benign	0.11
R7461:Lrrc37	UTSW	11	103,507,116 (GRCm39)	missense	unknown
R7544:Lrrc37	UTSW	11	103,506,274 (GRCm39)	missense	probably benign	0.01
R7613:Lrrc37	UTSW	11	103,507,116 (GRCm39)	missense	unknown
R7711:Lrrc37	UTSW	11	103,505,738 (GRCm39)	missense	probably benign	0.02
R7714:Lrrc37	UTSW	11	103,507,719 (GRCm39)	missense	unknown
R7747:Lrrc37	UTSW	11	103,505,081 (GRCm39)	missense	probably damaging	0.98
R7814:Lrrc37	UTSW	11	103,504,999 (GRCm39)	missense	possibly damaging	0.53
R8053:Lrrc37	UTSW	11	103,495,392 (GRCm39)	missense	unknown
R8063:Lrrc37	UTSW	11	103,433,087 (GRCm39)	missense	unknown
R8116:Lrrc37	UTSW	11	103,434,115 (GRCm39)	missense	unknown
R8124:Lrrc37	UTSW	11	103,511,257 (GRCm39)	missense	unknown
R8141:Lrrc37	UTSW	11	103,511,855 (GRCm39)	missense	unknown
R8163:Lrrc37	UTSW	11	103,506,688 (GRCm39)	missense	unknown
R8270:Lrrc37	UTSW	11	103,434,141 (GRCm39)	missense	unknown
R8348:Lrrc37	UTSW	11	103,511,726 (GRCm39)	missense	unknown
R8362:Lrrc37	UTSW	11	103,506,163 (GRCm39)	missense	probably benign	0.34
R8448:Lrrc37	UTSW	11	103,511,726 (GRCm39)	missense	unknown
R8465:Lrrc37	UTSW	11	103,506,947 (GRCm39)	unclassified	probably benign
R8473:Lrrc37	UTSW	11	103,434,266 (GRCm39)	missense	unknown
R8781:Lrrc37	UTSW	11	103,508,958 (GRCm39)	missense	unknown
R8821:Lrrc37	UTSW	11	103,510,470 (GRCm39)	missense	unknown
R8859:Lrrc37	UTSW	11	103,506,370 (GRCm39)	missense	unknown
R8888:Lrrc37	UTSW	11	103,509,656 (GRCm39)	missense	unknown
R8895:Lrrc37	UTSW	11	103,509,656 (GRCm39)	missense	unknown
R9083:Lrrc37	UTSW	11	103,509,830 (GRCm39)	missense	unknown
R9085:Lrrc37	UTSW	11	103,507,565 (GRCm39)	missense	unknown
R9088:Lrrc37	UTSW	11	103,511,762 (GRCm39)	missense	unknown
R9124:Lrrc37	UTSW	11	103,509,721 (GRCm39)	missense	unknown
R9177:Lrrc37	UTSW	11	103,508,263 (GRCm39)	missense	unknown
R9238:Lrrc37	UTSW	11	103,509,859 (GRCm39)	missense	unknown
R9267:Lrrc37	UTSW	11	103,495,406 (GRCm39)	missense	unknown
R9444:Lrrc37	UTSW	11	103,508,846 (GRCm39)	nonsense	probably null
R9517:Lrrc37	UTSW	11	103,433,416 (GRCm39)	missense	unknown
R9564:Lrrc37	UTSW	11	103,503,822 (GRCm39)	missense	unknown
R9632:Lrrc37	UTSW	11	103,433,252 (GRCm39)	missense	unknown
R9741:Lrrc37	UTSW	11	103,504,255 (GRCm39)	missense	possibly damaging	0.68
Z1176:Lrrc37	UTSW	11	103,504,507 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TCTCTGAAGGATGAGCTGGAGTCTC -3'
(R):5'- CTTCTCTTGGACAGGCTCAGCAAC -3'

Sequencing Primer
(F):5'- AGCTGGAGTCTCCATTATGGAAG -3'
(R):5'- AAGAGATTCTCTTTCACAATGCAG -3'

Posted On

2013-04-16