Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Prr22'

76931

Institutional Source

Beutler Lab

Gene Symbol

Prr22

Ensembl Gene

ENSMUSG00000090273

Gene Name

proline rich 22

Synonyms

LOC224908, Gm546

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0787 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

57077276-57079134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57078072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 75 (Y75F)

Ref Sequence

ENSEMBL: ENSMUSP00000127457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000007747] [ENSMUST00000086801] [ENSMUST00000168666]

AlphaFold

F6TNE3

Predicted Effect

probably benign
Transcript: ENSMUST00000002444

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	4	149	1.9e-50	PFAM
Pfam:RFX_DNA_binding	192	269	4.3e-36	PFAM
Blast:HisKA	479	542	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000007747

SMART Domains

Protein: ENSMUSP00000007747
Gene: ENSMUSG00000007603

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Blast:ZnF_C3H1	109	136	2e-6	BLAST
Blast:ZnF_C3H1	146	172	6e-9	BLAST
Pfam:Dus	295	566	2e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086801

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	151	6.8e-56	PFAM
Pfam:RFX_DNA_binding	161	246	6e-41	PFAM
Blast:HisKA	454	517	1e-31	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168666
AA Change: Y75F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127457
Gene: ENSMUSG00000090273
AA Change: Y75F

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
Pfam:PRR22	58	422	2.3e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187612

Meta Mutation Damage Score

0.0729

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001F09Rik	A	T	14: 43,202,950 (GRCm39)		probably null	Het
Abca8a	T	A	11: 109,933,814 (GRCm39)	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,786,955 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,886,948 (GRCm39)	C979S	probably damaging	Het
Agap2	T	A	10: 126,921,019 (GRCm39)	D523E	unknown	Het
Ankfy1	T	A	11: 72,651,122 (GRCm39)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,700,315 (GRCm39)	S379G	probably null	Het
Arhgap40	T	C	2: 158,389,710 (GRCm39)	S625P	probably benign	Het
Armc12	G	C	17: 28,757,740 (GRCm39)	A291P	probably damaging	Het
Armc9	A	G	1: 86,130,227 (GRCm39)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,545,767 (GRCm39)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,036,079 (GRCm39)	N277S	probably benign	Het
Czib	T	A	4: 107,747,326 (GRCm39)	L6Q	probably damaging	Het
Dennd2b	G	T	7: 109,124,827 (GRCm39)	R1068S	possibly damaging	Het
E130311K13Rik	A	T	3: 63,827,719 (GRCm39)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,772,696 (GRCm39)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,336,010 (GRCm39)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,062,702 (GRCm39)	V222E	probably benign	Het
Fat1	T	A	8: 45,493,592 (GRCm39)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,241,765 (GRCm39)		probably benign	Het
Hltf	A	T	3: 20,160,610 (GRCm39)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Isg15	C	T	4: 156,284,396 (GRCm39)	R44H	probably benign	Het
Itga4	C	T	2: 79,109,497 (GRCm39)	T232I	probably benign	Het
Kntc1	C	A	5: 123,934,167 (GRCm39)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,032,995 (GRCm39)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,504,230 (GRCm39)	C29F	probably damaging	Het
Mtmr10	T	C	7: 63,950,363 (GRCm39)	I136T	possibly damaging	Het
Naip1	A	G	13: 100,562,604 (GRCm39)	Y854H	probably benign	Het
Or6c201	T	C	10: 128,969,395 (GRCm39)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 94,124,193 (GRCm39)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,487,479 (GRCm39)		probably benign	Het
Phgdh	A	G	3: 98,241,865 (GRCm39)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,827,031 (GRCm39)	M326K	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,802,916 (GRCm39)	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,392,660 (GRCm39)	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,292,678 (GRCm39)	T326A	probably damaging	Het
Ptov1	A	C	7: 44,514,894 (GRCm39)		probably null	Het
Rasal2	A	G	1: 156,986,266 (GRCm39)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,683,802 (GRCm39)	T337A	probably benign	Het
Tbc1d4	A	T	14: 101,686,645 (GRCm39)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,912,777 (GRCm39)	V1126A	probably benign	Het
Tep1	A	T	14: 51,066,687 (GRCm39)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,586,449 (GRCm39)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,200,965 (GRCm39)	I425V	probably benign	Het
Ubr3	T	C	2: 69,781,765 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,200,581 (GRCm39)		probably benign	Het
Vmn2r13	A	G	5: 109,304,713 (GRCm39)	S573P	probably damaging	Het
Wdfy3	A	T	5: 102,105,254 (GRCm39)	V191E	probably damaging	Het
Zdhhc3	A	T	9: 122,912,688 (GRCm39)	C153*	probably null	Het
Zfp407	A	T	18: 84,227,147 (GRCm39)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,227,471 (GRCm39)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,634 (GRCm39)	I227N	unknown	Het

Other mutations in Prr22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0462:Prr22	UTSW	17	57,077,551 (GRCm39)	unclassified	probably benign
R2290:Prr22	UTSW	17	57,078,884 (GRCm39)	missense	probably benign
R4749:Prr22	UTSW	17	57,078,274 (GRCm39)	missense	possibly damaging	0.51
R5099:Prr22	UTSW	17	57,078,467 (GRCm39)	missense	probably benign	0.32
R6268:Prr22	UTSW	17	57,078,587 (GRCm39)	missense	probably damaging	0.98
R6339:Prr22	UTSW	17	57,078,490 (GRCm39)	missense	probably benign	0.02
R6542:Prr22	UTSW	17	57,077,527 (GRCm39)	splice site	probably null
R6951:Prr22	UTSW	17	57,079,028 (GRCm39)	nonsense	probably null
R6991:Prr22	UTSW	17	57,078,345 (GRCm39)	missense	possibly damaging	0.92
R7721:Prr22	UTSW	17	57,078,819 (GRCm39)	missense	possibly damaging	0.92
R8352:Prr22	UTSW	17	57,078,311 (GRCm39)	missense	probably damaging	1.00
R8452:Prr22	UTSW	17	57,078,311 (GRCm39)	missense	probably damaging	1.00
R9479:Prr22	UTSW	17	57,078,335 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCCAAACTCAGGTCGCTGTTC -3'
(R):5'- TCCTCCGCTGGAAGGTAATGTGTG -3'

Sequencing Primer
(F):5'- CAACAGTTTCTCTGTGTCAGATG -3'
(R):5'- TGAGGTACTGTGGCCCG -3'

Posted On

2013-10-16