Mutagenetix > Incidental Mutation

Incidental Mutation 'R1015:Lrrc37'

96189

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37

Ensembl Gene

ENSMUSG00000034239

Gene Name

leucine rich repeat containing 37

Synonyms

LOC380730, Gm884

MMRRC Submission

039119-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R1015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103425403-103511966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103436622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 754 (H754R)

Ref Sequence

ENSEMBL: ENSMUSP00000129662 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000059279
AA Change: H2930R

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: H2930R

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

probably benign
Transcript: ENSMUST00000167262
AA Change: H754R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239
AA Change: H754R

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3d1	A	G	10: 80,552,323 (GRCm39)	V615A	probably damaging	Het
Atp6v1d	A	G	12: 78,896,543 (GRCm39)	V108A	possibly damaging	Het
B3gnt6	C	A	7: 97,843,802 (GRCm39)	V53L	probably benign	Het
C8b	A	G	4: 104,644,157 (GRCm39)	K275E	probably benign	Het
Cage1	T	A	13: 38,200,451 (GRCm39)	N683I	possibly damaging	Het
Celsr3	T	C	9: 108,710,375 (GRCm39)	V1535A	probably benign	Het
Cep120	C	T	18: 53,836,193 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,788,844 (GRCm39)		probably null	Het
Chd9	T	A	8: 91,659,206 (GRCm39)	H55Q	probably damaging	Het
Dmxl2	G	A	9: 54,275,049 (GRCm39)	T2915I	probably benign	Het
Eps8l1	A	T	7: 4,472,932 (GRCm39)	D118V	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Galnt2	C	T	8: 125,063,356 (GRCm39)	H359Y	probably benign	Het
Kdm5d	T	C	Y: 941,687 (GRCm39)	V1296A	possibly damaging	Het
Kif27	T	A	13: 58,468,029 (GRCm39)	K849N	probably damaging	Het
Kif5c	T	A	2: 49,634,377 (GRCm39)	D736E	probably benign	Het
Krt18	T	C	15: 101,939,735 (GRCm39)	I311T	probably benign	Het
Lamc2	A	T	1: 153,041,945 (GRCm39)	V63D	possibly damaging	Het
Lmbrd1	T	A	1: 24,770,959 (GRCm39)	C295*	probably null	Het
Map3k14	T	A	11: 103,116,126 (GRCm39)	Q767H	probably damaging	Het
Mapkapk5	T	C	5: 121,671,425 (GRCm39)	K203E	probably benign	Het
Mcc	C	A	18: 44,857,736 (GRCm39)	L126F	probably benign	Het
Mib1	T	A	18: 10,726,409 (GRCm39)	H35Q	probably damaging	Het
Myo16	A	G	8: 10,440,183 (GRCm39)	N412D	probably benign	Het
Ndst2	T	C	14: 20,780,132 (GRCm39)	Y36C	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nwd2	T	C	5: 63,964,154 (GRCm39)	I1246T	probably damaging	Het
Or5d47	T	C	2: 87,804,431 (GRCm39)	T193A	probably benign	Het
Or5m9	T	C	2: 85,877,426 (GRCm39)	I200T	possibly damaging	Het
Patl1	T	C	19: 11,897,737 (GRCm39)	V108A	probably benign	Het
Pdzd2	T	C	15: 12,374,594 (GRCm39)	E1847G	probably damaging	Het
Pla2g2f	C	T	4: 138,481,579 (GRCm39)	V57I	probably benign	Het
Prag1	T	C	8: 36,613,697 (GRCm39)	V1083A	probably damaging	Het
Slc3a2	C	T	19: 8,685,319 (GRCm39)	W227*	probably null	Het
Snx9	A	G	17: 5,970,402 (GRCm39)	I379M	probably benign	Het
Spata31e4	T	G	13: 50,855,664 (GRCm39)	V434G	possibly damaging	Het
Tacc2	A	G	7: 130,225,795 (GRCm39)	K846E	probably benign	Het
Taf4b	T	A	18: 14,946,155 (GRCm39)	V326E	probably damaging	Het
Tnrc6c	C	T	11: 117,612,748 (GRCm39)	S462F	possibly damaging	Het
Trim66	C	T	7: 109,054,440 (GRCm39)	V1257I	probably damaging	Het
Urb2	T	C	8: 124,756,173 (GRCm39)	Y627H	probably damaging	Het
Usp53	A	G	3: 122,727,408 (GRCm39)	L1058P	probably benign	Het
Wdr24	A	G	17: 26,047,212 (GRCm39)	S702G	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
R0141:Lrrc37	UTSW	11	103,504,512 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCTCTTGCTCTCTGCACAAGGAAC -3'
(R):5'- GTCTGTTGAGAATGCCTGTCACCC -3'

Sequencing Primer
(F):5'- TCTGCACAAGGAACAGTGCTAC -3'
(R):5'- ATTGAGTCTCCGAGACCCAG -3'

Posted On

2014-01-05