Mutagenetix > Incidental Mutation

Incidental Mutation 'R4532:Pabir3'

333174

Institutional Source

Beutler Lab

Gene Symbol

Pabir3

Ensembl Gene

ENSMUSG00000036013

Gene Name

PABIR family member 3

Synonyms

4930432H15Rik, Fam122c, 4930527G05Rik

MMRRC Submission

041772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4532 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

52362301-52420062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52382376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 94 (R94H)

Ref Sequence

ENSEMBL: ENSMUSP00000139776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114835] [ENSMUST00000124137] [ENSMUST00000186314]

AlphaFold

Q9D5J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114835
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124137
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186314
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Aoc1l1	A	G	6: 48,955,101 (GRCm39)	E647G	possibly damaging	Het
Ap3b1	A	G	13: 94,702,243 (GRCm39)	K1099E	unknown	Het
Arhgap42	T	C	9: 9,011,433 (GRCm39)	D451G	probably damaging	Het
Cd19	C	T	7: 126,011,281 (GRCm39)	C301Y	probably damaging	Het
Cdh23	T	C	10: 60,370,202 (GRCm39)	T198A	probably benign	Het
Cdt1	T	C	8: 123,298,495 (GRCm39)	S407P	probably benign	Het
Cyp26c1	A	G	19: 37,674,227 (GRCm39)	T34A	probably damaging	Het
Dbh	C	A	2: 27,067,343 (GRCm39)	H409Q	possibly damaging	Het
Eif5	T	A	12: 111,506,318 (GRCm39)	C52*	probably null	Het
Fhod3	A	G	18: 25,243,278 (GRCm39)	Y1212C	probably damaging	Het
Ggh	T	A	4: 20,046,225 (GRCm39)	F44L	probably benign	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm21095	A	G	Y: 84,131,953 (GRCm39)	N149S	probably damaging	Het
Gys2	T	A	6: 142,400,867 (GRCm39)	H311L	probably damaging	Het
Hcn4	C	T	9: 58,765,081 (GRCm39)	R558C	unknown	Het
Heatr6	T	C	11: 83,660,498 (GRCm39)	L546P	probably damaging	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Lpin1	C	T	12: 16,603,963 (GRCm39)	G623S	probably benign	Het
Lrfn2	A	G	17: 49,377,564 (GRCm39)	D215G	probably damaging	Het
Lrrc3c	C	A	11: 98,489,859 (GRCm39)	S72*	probably null	Het
Me3	G	A	7: 89,282,108 (GRCm39)		probably benign	Het
Msln	A	G	17: 25,969,698 (GRCm39)	I344T	probably damaging	Het
Oma1	G	A	4: 103,176,571 (GRCm39)	V112I	probably benign	Het
Or5al6	A	T	2: 85,976,274 (GRCm39)	L268Q	possibly damaging	Het
Or5p4	T	C	7: 107,680,756 (GRCm39)	Y252H	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pdgfra	A	G	5: 75,341,744 (GRCm39)	N659S	probably damaging	Het
Rmnd5a	A	T	6: 71,376,109 (GRCm39)		probably null	Het
Slc12a8	C	A	16: 33,371,403 (GRCm39)	R180S	probably damaging	Het
Slc6a15	G	A	10: 103,245,648 (GRCm39)	V544M	possibly damaging	Het
Slco5a1	T	A	1: 12,949,447 (GRCm39)	T648S	probably damaging	Het
Snx13	T	C	12: 35,194,219 (GRCm39)	F921L	probably damaging	Het
Stard6	A	C	18: 70,616,605 (GRCm39)	D88A	probably damaging	Het
Svep1	G	T	4: 58,068,886 (GRCm39)	H2967N	possibly damaging	Het
Tcaf2	A	C	6: 42,603,371 (GRCm39)	Y730D	probably damaging	Het
Tes	G	A	6: 17,097,407 (GRCm39)	V172M	possibly damaging	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Vmn1r23	A	G	6: 57,902,914 (GRCm39)	I288T	probably benign	Het
Vmn1r38	G	T	6: 66,754,016 (GRCm39)	H33Q	probably benign	Het
Vmn2r75	G	T	7: 85,797,349 (GRCm39)	C821*	probably null	Het
Zfp282	C	T	6: 47,867,567 (GRCm39)	P248S	probably benign	Het
Zfp655	T	A	5: 145,181,507 (GRCm39)	I455N	probably benign	Het

Other mutations in Pabir3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4198:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4199:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4361:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4515:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4517:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4518:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4519:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4522:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4523:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4529:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4530:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4533:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCCATTGCTGCTGTACACTC -3'
(R):5'- GTAATCGGCTATGACTGCTTTTAG -3'

Sequencing Primer
(F):5'- GCCATTGCTGCTGTACACTCAATAAG -3'
(R):5'- AAGCCTCCTGATGATGACCTG -3'

Posted On

2015-08-18