Mutagenetix > Incidental Mutation

Incidental Mutation 'R5731:Gprin2'

452777

Institutional Source

Beutler Lab

Gene Symbol

Gprin2

Ensembl Gene

ENSMUSG00000071531

Gene Name

G protein regulated inducer of neurite outgrowth 2

Synonyms

C130040D06Rik

MMRRC Submission

043192-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R5731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33907645-33923610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33917397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 124 (L124F)

Ref Sequence

ENSEMBL: ENSMUSP00000154640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096019] [ENSMUST00000226511] [ENSMUST00000226613]

AlphaFold

A0A2I3BRN2

Predicted Effect

probably benign
Transcript: ENSMUST00000096019

SMART Domains

Protein: ENSMUSP00000093718
Gene: ENSMUSG00000071531

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
Pfam:GRIN_C	336	452	3.9e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226511
AA Change: L124F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226613
AA Change: L124F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,353 (GRCm39)	I58V	unknown	Het
Abca4	G	T	3: 121,926,242 (GRCm39)	G18V	probably damaging	Het
Arl9	T	C	5: 77,154,374 (GRCm39)	V34A	possibly damaging	Het
Bpifb9a	A	T	2: 154,104,163 (GRCm39)	N202I	possibly damaging	Het
C1qtnf6	A	T	15: 78,411,514 (GRCm39)	M54K	probably benign	Het
Ccdc62	T	C	5: 124,089,352 (GRCm39)		probably null	Het
Cd177	A	G	7: 24,443,846 (GRCm39)	C751R	probably damaging	Het
Clcn3	T	C	8: 61,375,923 (GRCm39)	I657V	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dag1	T	C	9: 108,095,310 (GRCm39)	T61A	probably benign	Het
Fam184b	C	T	5: 45,710,471 (GRCm39)	G553E	probably benign	Het
Fkbp15	G	C	4: 62,225,166 (GRCm39)	A831G	probably benign	Het
Flt1	T	C	5: 147,614,962 (GRCm39)	H328R	probably benign	Het
Fmnl2	T	A	2: 53,008,149 (GRCm39)		probably null	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Hacd2	T	A	16: 34,922,374 (GRCm39)	Y188N	probably damaging	Het
Itgad	A	G	7: 127,797,726 (GRCm39)	T950A	probably benign	Het
Kit	T	A	5: 75,815,075 (GRCm39)	I933N	possibly damaging	Het
Klhl11	A	T	11: 100,354,589 (GRCm39)	Y411N	probably damaging	Het
N4bp2	T	C	5: 65,966,500 (GRCm39)	S1313P	probably damaging	Het
Neurog1	T	C	13: 56,399,354 (GRCm39)	K131R	probably damaging	Het
Or11h6	T	C	14: 50,880,248 (GRCm39)	L170P	probably damaging	Het
Or5d16	T	A	2: 87,773,771 (GRCm39)	H67L	possibly damaging	Het
Otogl	T	C	10: 107,717,325 (GRCm39)	D382G	probably damaging	Het
Pcdh1	A	C	18: 38,331,651 (GRCm39)	F590V	probably damaging	Het
Pcdha5	G	A	18: 37,093,820 (GRCm39)	V110M	probably damaging	Het
Pdlim3	A	G	8: 46,368,284 (GRCm39)	N261D	probably benign	Het
Pou4f1	T	C	14: 104,703,347 (GRCm39)	T362A	unknown	Het
Prlr	A	G	15: 10,314,221 (GRCm39)	T9A	probably benign	Het
Psmb7	T	C	2: 38,478,289 (GRCm39)	Y245C	probably damaging	Het
Ryr3	T	A	2: 112,471,917 (GRCm39)	D4515V	probably damaging	Het
Svop	T	C	5: 114,198,124 (GRCm39)	K149E	probably damaging	Het
Tlr3	A	G	8: 45,851,157 (GRCm39)	V56A	probably benign	Het
Tm4sf20	T	G	1: 82,738,013 (GRCm39)	I93L	probably benign	Het
Ugt2b5	T	A	5: 87,288,111 (GRCm39)	R19*	probably null	Het
Vmn2r28	G	T	7: 5,491,668 (GRCm39)	T193K	probably benign	Het
Vps13c	A	G	9: 67,802,661 (GRCm39)	D654G	probably damaging	Het
Zfyve16	T	A	13: 92,644,701 (GRCm39)	Q1167L	probably benign	Het

Other mutations in Gprin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1515:Gprin2	UTSW	14	33,917,230 (GRCm39)	missense	possibly damaging	0.89
R1523:Gprin2	UTSW	14	33,917,036 (GRCm39)	missense	probably benign
R2915:Gprin2	UTSW	14	33,917,038 (GRCm39)	missense	possibly damaging	0.68
R4033:Gprin2	UTSW	14	33,916,635 (GRCm39)	missense	probably benign	0.02
R4484:Gprin2	UTSW	14	33,916,754 (GRCm39)	missense	probably benign	0.01
R5193:Gprin2	UTSW	14	33,916,832 (GRCm39)	missense	possibly damaging	0.59
R6912:Gprin2	UTSW	14	33,916,597 (GRCm39)	missense	probably damaging	1.00
R7011:Gprin2	UTSW	14	33,917,393 (GRCm39)	missense	probably null	0.09
R7451:Gprin2	UTSW	14	33,917,762 (GRCm39)	missense	probably damaging	0.96
R7640:Gprin2	UTSW	14	33,917,710 (GRCm39)	missense	probably benign	0.00
R7769:Gprin2	UTSW	14	33,917,570 (GRCm39)	missense	probably benign	0.09
R7989:Gprin2	UTSW	14	33,916,661 (GRCm39)	nonsense	probably null
R9025:Gprin2	UTSW	14	33,916,957 (GRCm39)	missense	probably damaging	1.00
R9746:Gprin2	UTSW	14	33,917,615 (GRCm39)	missense	probably benign	0.03
Z1177:Gprin2	UTSW	14	33,917,080 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATCTTCTAGTTCTACGGTTGGC -3'
(R):5'- AGACTGAGATCCCAGAGCAC -3'

Sequencing Primer
(F):5'- GCAGGCTGATTTAGAAGTCCCATC -3'
(R):5'- AGAGCACGCGCAGACTG -3'

Posted On

2017-01-03