Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Gprin3'

553394

Institutional Source

Beutler Lab

Gene Symbol

Gprin3

Ensembl Gene

ENSMUSG00000045441

Gene Name

GPRIN family member 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59347226-59426294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59355143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 60 (A60T)

Ref Sequence

ENSEMBL: ENSMUSP00000051805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051065]

AlphaFold

Q8BWS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051065
AA Change: A60T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051805
Gene: ENSMUSG00000045441
AA Change: A60T

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	311	329	N/A	INTRINSIC
low complexity region	593	609	N/A	INTRINSIC
Pfam:GRIN_C	627	758	2.7e-49	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,120,901 (GRCm38)		probably null	Het
Ap2a2	G	A	7: 141,598,864 (GRCm38)	A148T	probably benign	Het
Arhgef3	A	T	14: 27,401,707 (GRCm38)	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,925,852 (GRCm38)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,322,455 (GRCm38)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,525,083 (GRCm38)	Y188F	probably benign	Het
Capn10	T	C	1: 92,945,271 (GRCm38)	V573A	possibly damaging	Het
Cbx4	T	C	11: 119,081,928 (GRCm38)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,688,869 (GRCm38)		probably null	Het
Ccng2	C	A	5: 93,268,755 (GRCm38)	P45Q	probably benign	Het
Cd86	T	C	16: 36,620,901 (GRCm38)	H68R	probably benign	Het
Cmtm4	A	G	8: 104,355,195 (GRCm38)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,768,729 (GRCm38)	N134S	probably benign	Het
Cyp3a25	A	T	5: 146,003,045 (GRCm38)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,693,766 (GRCm38)	E1439G	probably benign	Het
Dock4	T	C	12: 40,636,159 (GRCm38)	V131A	probably benign	Het
Dpysl2	A	G	14: 66,862,533 (GRCm38)	S85P	probably benign	Het
Dync1i2	A	G	2: 71,247,939 (GRCm38)	H324R	probably benign	Het
Elf1	A	G	14: 79,567,270 (GRCm38)	D162G	probably benign	Het
Eri3	G	A	4: 117,649,407 (GRCm38)		probably null	Het
Fbxl21	T	C	13: 56,532,332 (GRCm38)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,205,758 (GRCm38)	R291C	probably damaging	Het
Gm13089	T	G	4: 143,698,432 (GRCm38)	H147P	probably benign	Het
Hecw1	A	G	13: 14,316,533 (GRCm38)	C212R	probably benign	Het
Hivep3	T	C	4: 120,097,121 (GRCm38)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,139,102 (GRCm38)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,937,141 (GRCm38)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,144,995 (GRCm38)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,626,112 (GRCm38)	T282A	probably benign	Het
Kidins220	T	A	12: 25,036,624 (GRCm38)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,741,972 (GRCm38)	V1043A	probably benign	Het
Mon2	C	T	10: 123,035,453 (GRCm38)	V420I	probably benign	Het
Naip6	T	A	13: 100,300,200 (GRCm38)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,487,055 (GRCm38)	I285T	probably benign	Het
Notch3	A	G	17: 32,156,377 (GRCm38)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,088,764 (GRCm38)		probably benign	Het
Nutm1	G	A	2: 112,250,056 (GRCm38)	R505C	probably damaging	Het
Olfr1009	T	A	2: 85,721,474 (GRCm38)	L23Q	probably damaging	Het
Olfr1200	G	A	2: 88,767,964 (GRCm38)	A117V	probably damaging	Het
Olfr1362	C	T	13: 21,611,127 (GRCm38)	V281M	possibly damaging	Het
Olfr821	T	G	10: 130,034,214 (GRCm38)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,683,272 (GRCm38)	A176V	probably null	Het
Pabpc6	C	A	17: 9,668,428 (GRCm38)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,144,186 (GRCm38)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,739,131 (GRCm38)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm38)		probably benign	Het
Pigu	A	C	2: 155,301,240 (GRCm38)	L248R	possibly damaging	Het
Pinx1	C	A	14: 63,860,385 (GRCm38)		probably null	Het
Pon3	T	C	6: 5,221,664 (GRCm38)	N322S	possibly damaging	Het
Rnft1	A	G	11: 86,491,760 (GRCm38)	I270V	probably benign	Het
Scgb2b11	A	G	7: 32,210,581 (GRCm38)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 76,075,109 (GRCm38)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,103,019 (GRCm38)	H345L	probably benign	Het
Sox1	C	T	8: 12,397,405 (GRCm38)	P349S	possibly damaging	Het
Spata31	A	G	13: 64,921,099 (GRCm38)	N354D	probably benign	Het
Speg	T	C	1: 75,406,770 (GRCm38)		probably null	Het
Stpg1	T	C	4: 135,533,722 (GRCm38)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,877,287 (GRCm38)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,292,236 (GRCm38)	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,730,047 (GRCm38)	S7P	probably benign	Het
Tlr1	T	C	5: 64,925,678 (GRCm38)	I519V	probably benign	Het
Tmem238	A	G	7: 4,789,073 (GRCm38)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,434,484 (GRCm38)		probably null	Het
Togaram2	A	T	17: 71,714,766 (GRCm38)	H742L	probably benign	Het
Trpc7	A	T	13: 56,789,674 (GRCm38)	Y656*	probably null	Het
Wdr35	T	A	12: 9,022,785 (GRCm38)	Y920N	probably damaging	Het
Xab2	G	A	8: 3,618,117 (GRCm38)	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,140,113 (GRCm38)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,628,481 (GRCm38)	A169S	probably benign	Het

Other mutations in Gprin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Gprin3	APN	6	59,353,837 (GRCm38)	missense	possibly damaging	0.72
IGL02059:Gprin3	APN	6	59,355,325 (GRCm38)	utr 5 prime	probably benign
IGL02080:Gprin3	APN	6	59,354,191 (GRCm38)	missense	possibly damaging	0.91
IGL02183:Gprin3	APN	6	59,353,162 (GRCm38)	missense	possibly damaging	0.87
IGL02267:Gprin3	APN	6	59,354,473 (GRCm38)	missense	probably benign	0.02
IGL02801:Gprin3	APN	6	59,354,981 (GRCm38)	missense	possibly damaging	0.53
IGL03212:Gprin3	APN	6	59,355,028 (GRCm38)	missense	probably benign
creep	UTSW	6	59,353,387 (GRCm38)	missense	probably damaging	0.98
simplex	UTSW	6	59,354,560 (GRCm38)	missense	possibly damaging	0.72
viridae	UTSW	6	59,354,936 (GRCm38)	missense	possibly damaging	0.86
R0505:Gprin3	UTSW	6	59,353,387 (GRCm38)	missense	probably damaging	0.98
R0944:Gprin3	UTSW	6	59,353,915 (GRCm38)	missense	possibly damaging	0.72
R1028:Gprin3	UTSW	6	59,354,609 (GRCm38)	missense	possibly damaging	0.53
R1180:Gprin3	UTSW	6	59,354,936 (GRCm38)	missense	possibly damaging	0.86
R1290:Gprin3	UTSW	6	59,354,464 (GRCm38)	missense	possibly damaging	0.53
R2060:Gprin3	UTSW	6	59,354,519 (GRCm38)	missense	possibly damaging	0.73
R2403:Gprin3	UTSW	6	59,354,149 (GRCm38)	missense	probably benign	0.13
R3830:Gprin3	UTSW	6	59,353,633 (GRCm38)	missense	probably benign	0.12
R3893:Gprin3	UTSW	6	59,354,479 (GRCm38)	missense	probably benign	0.12
R3983:Gprin3	UTSW	6	59,354,560 (GRCm38)	missense	possibly damaging	0.72
R4812:Gprin3	UTSW	6	59,353,365 (GRCm38)	missense	possibly damaging	0.85
R4932:Gprin3	UTSW	6	59,354,173 (GRCm38)	missense	probably benign	0.33
R4944:Gprin3	UTSW	6	59,354,659 (GRCm38)	missense	probably benign	0.00
R5523:Gprin3	UTSW	6	59,353,946 (GRCm38)	nonsense	probably null
R5677:Gprin3	UTSW	6	59,353,892 (GRCm38)	missense	possibly damaging	0.73
R5772:Gprin3	UTSW	6	59,354,413 (GRCm38)	missense	possibly damaging	0.86
R5879:Gprin3	UTSW	6	59,354,713 (GRCm38)	missense	probably benign
R5881:Gprin3	UTSW	6	59,354,786 (GRCm38)	missense	probably benign	0.18
R6044:Gprin3	UTSW	6	59,353,672 (GRCm38)	missense	possibly damaging	0.72
R6272:Gprin3	UTSW	6	59,353,331 (GRCm38)	nonsense	probably null
R7528:Gprin3	UTSW	6	59,354,032 (GRCm38)	missense	possibly damaging	0.85
R7891:Gprin3	UTSW	6	59,353,711 (GRCm38)	missense	probably benign	0.22
R7970:Gprin3	UTSW	6	59,353,165 (GRCm38)	missense	possibly damaging	0.71
R8129:Gprin3	UTSW	6	59,353,859 (GRCm38)	missense	probably benign	0.03
R8190:Gprin3	UTSW	6	59,354,471 (GRCm38)	missense	possibly damaging	0.73
R8291:Gprin3	UTSW	6	59,355,005 (GRCm38)	missense	possibly damaging	0.47
R8466:Gprin3	UTSW	6	59,354,482 (GRCm38)	missense	probably benign	0.33
R8466:Gprin3	UTSW	6	59,354,481 (GRCm38)	missense	possibly damaging	0.73
R9135:Gprin3	UTSW	6	59,353,288 (GRCm38)	missense	probably benign	0.05
R9182:Gprin3	UTSW	6	59,354,212 (GRCm38)	missense	probably benign	0.02
R9762:Gprin3	UTSW	6	59,354,251 (GRCm38)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGGCGCAGATATAAGTTCCTTTTG -3'
(R):5'- AGACACTGGAGCGATCTTGG -3'

Sequencing Primer
(F):5'- CGCAGATATAAGTTCCTTTTGTGCAG -3'
(R):5'- CGATCTTGGAAAGAGGTCCC -3'

Posted On

2019-05-15