Mutagenetix > Incidental Mutation

Incidental Mutation 'R8470:Prrg4'

656981

Institutional Source

Beutler Lab

Gene Symbol

Prrg4

Ensembl Gene

ENSMUSG00000027171

Gene Name

proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)

Synonyms

9930111I18Rik, TMG4

MMRRC Submission

067914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8470 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104661086-104680221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104679501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 8 (L8P)

Ref Sequence

ENSEMBL: ENSMUSP00000121788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028593] [ENSMUST00000126824]

AlphaFold

Q8BGN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028593
AA Change: L8P

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

SMART Domains

Protein: ENSMUSP00000028593
Gene: ENSMUSG00000027171
AA Change: L8P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GLA	33	97	1.71e-18	SMART
transmembrane domain	118	140	N/A	INTRINSIC
low complexity region	203	210	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126824
AA Change: L8P

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

SMART Domains

Protein: ENSMUSP00000121788
Gene: ENSMUSG00000027171
AA Change: L8P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GLA	33	97	1.71e-18	SMART
transmembrane domain	118	140	N/A	INTRINSIC

Meta Mutation Damage Score

0.7499

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,476,685 (GRCm39)	I142F	probably damaging	Het
Adamts16	A	G	13: 70,984,496 (GRCm39)	Y56H	probably damaging	Het
Alms1	A	G	6: 85,618,357 (GRCm39)	D2801G	probably damaging	Het
Anpep	A	G	7: 79,489,269 (GRCm39)	I301T	probably benign	Het
Atxn7l2	G	A	3: 108,114,285 (GRCm39)	T159M	probably benign	Het
B130006D01Rik	C	T	11: 95,617,175 (GRCm39)		probably benign	Het
Btf3l4b	C	A	13: 96,217,432 (GRCm39)	D136Y	possibly damaging	Het
Ccdc175	T	C	12: 72,202,392 (GRCm39)	K301R	probably damaging	Het
Cecr2	A	T	6: 120,733,894 (GRCm39)	Q627L	probably benign	Het
Cerkl	C	A	2: 79,172,751 (GRCm39)	M307I	probably benign	Het
Eif2ak4	A	G	2: 118,293,207 (GRCm39)	I1254M	probably damaging	Het
Epha3	T	C	16: 63,664,510 (GRCm39)	T37A	probably benign	Het
Fancm	T	C	12: 65,171,931 (GRCm39)	V1857A	probably damaging	Het
Gm3486	T	C	14: 41,206,538 (GRCm39)		probably null	Het
Il1r2	T	C	1: 40,162,416 (GRCm39)	V353A	probably damaging	Het
Irgq	A	T	7: 24,233,715 (GRCm39)	R519W	probably damaging	Het
Map1b	T	A	13: 99,652,950 (GRCm39)	S16C	probably damaging	Het
Myo9a	T	G	9: 59,739,573 (GRCm39)	C762G	probably damaging	Het
Nup107	A	T	10: 117,606,374 (GRCm39)	V454E	probably damaging	Het
Or10h5	A	G	17: 33,434,868 (GRCm39)	V150A	probably benign	Het
Or4p20	A	T	2: 88,254,228 (GRCm39)	I47N	probably damaging	Het
Or7g35	T	G	9: 19,496,265 (GRCm39)	L144R	probably damaging	Het
Pcdha11	A	G	18: 37,145,937 (GRCm39)	K676R	probably benign	Het
Pknox2	C	T	9: 36,834,986 (GRCm39)	R161H	probably damaging	Het
Prr5l	T	C	2: 101,547,430 (GRCm39)	N365S	probably benign	Het
Rasgrp2	T	A	19: 6,453,595 (GRCm39)		probably null	Het
Rtp4	A	T	16: 23,428,827 (GRCm39)	H30L	probably benign	Het
Rxfp2	T	G	5: 149,993,834 (GRCm39)	I632S	possibly damaging	Het
Spata31h1	A	C	10: 82,126,314 (GRCm39)	F2232C	probably damaging	Het
Sptbn1	C	A	11: 30,070,758 (GRCm39)	E1533D	possibly damaging	Het
Ssbp1	A	G	6: 40,454,941 (GRCm39)	I133M	probably damaging	Het
Stap1	A	G	5: 86,242,602 (GRCm39)	I188V	possibly damaging	Het
Topaz1	T	C	9: 122,603,173 (GRCm39)	M1040T	probably benign	Het
Trpm3	T	C	19: 22,887,501 (GRCm39)	F877L	possibly damaging	Het
Ush1c	A	G	7: 45,858,674 (GRCm39)	L538P	probably damaging	Het
Zfp518a	G	A	19: 40,904,162 (GRCm39)	A1364T	probably benign	Het

Other mutations in Prrg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01804:Prrg4	APN	2	104,663,035 (GRCm39)	missense	probably damaging	1.00
R0884:Prrg4	UTSW	2	104,669,707 (GRCm39)	missense	probably damaging	1.00
R1624:Prrg4	UTSW	2	104,663,027 (GRCm39)	missense	probably damaging	0.97
R1647:Prrg4	UTSW	2	104,663,088 (GRCm39)	missense	probably benign	0.00
R1648:Prrg4	UTSW	2	104,663,088 (GRCm39)	missense	probably benign	0.00
R2151:Prrg4	UTSW	2	104,669,733 (GRCm39)	missense	probably damaging	1.00
R5592:Prrg4	UTSW	2	104,663,123 (GRCm39)	missense	probably benign	0.22
R5898:Prrg4	UTSW	2	104,675,378 (GRCm39)	missense	probably benign	0.00
R7158:Prrg4	UTSW	2	104,662,958 (GRCm39)	missense	probably damaging	1.00
R7203:Prrg4	UTSW	2	104,669,787 (GRCm39)	missense	possibly damaging	0.63
R7727:Prrg4	UTSW	2	104,669,723 (GRCm39)	missense	probably benign	0.00
R9251:Prrg4	UTSW	2	104,675,399 (GRCm39)	missense	probably damaging	1.00
R9377:Prrg4	UTSW	2	104,669,728 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTGTTGCACTGTGGTTCAC -3'
(R):5'- GAGTACCTTTTGTTCCCAGGC -3'

Sequencing Primer
(F):5'- GGGCGTGTAATTCCCCCTAC -3'
(R):5'- CCTTGGGTCCCATAGATTAAGAGC -3'

Posted On

2021-01-18