Mutagenetix > Incidental Mutation

Incidental Mutation 'R9285:Gprin1'

703873

Institutional Source

Beutler Lab

Gene Symbol

Gprin1

Ensembl Gene

ENSMUSG00000069227

Gene Name

G protein-regulated inducer of neurite outgrowth 1

Synonyms

Z16, GRIN1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54884484-54897486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54886523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 584 (S584P)

Ref Sequence

ENSEMBL: ENSMUSP00000097106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]

AlphaFold

Q3UNH4

Predicted Effect

probably benign
Transcript: ENSMUST00000037145

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	48	122	8.62e-15	SMART
CA	146	239	1.4e-2	SMART
CA	263	351	2.19e-16	SMART
CA	391	478	4.22e-9	SMART
CA	503	584	2.15e-24	SMART
CA	605	693	6.78e-22	SMART
CA	715	805	1.78e-16	SMART
CA	830	925	7.57e-11	SMART
CA	950	1042	7.1e-2	SMART
low complexity region	1121	1147	N/A	INTRINSIC
transmembrane domain	1153	1175	N/A	INTRINSIC
low complexity region	1195	1209	N/A	INTRINSIC
low complexity region	1234	1250	N/A	INTRINSIC
low complexity region	1264	1277	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099506
AA Change: S584P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: S584P

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	790	929	4.2e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135343
AA Change: S584P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: S584P

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	787	932	2.6e-49	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,526,756 (GRCm39)	T1085K	probably benign	Het
Asxl3	A	T	18: 22,654,989 (GRCm39)	I1000F	probably damaging	Het
Atp2c2	A	G	8: 120,465,141 (GRCm39)	M308V	probably benign	Het
Chd3	G	T	11: 69,249,954 (GRCm39)	R736S	possibly damaging	Het
Chst9	T	A	18: 15,586,017 (GRCm39)	H182L	probably damaging	Het
Cnot1	A	G	8: 96,452,746 (GRCm39)	F2112S	probably damaging	Het
Csmd1	A	T	8: 15,956,088 (GRCm39)	L3373H	probably damaging	Het
Ctsll3	T	A	13: 60,946,402 (GRCm39)	D303V	probably benign	Het
Cyp7b1	T	A	3: 18,151,564 (GRCm39)	K216N	probably damaging	Het
Dock9	A	C	14: 121,833,012 (GRCm39)	F1315V	probably benign	Het
Eme2	T	C	17: 25,108,132 (GRCm39)		probably benign	Het
Eml2	A	G	7: 18,925,568 (GRCm39)	I222M	probably damaging	Het
Ggcx	T	A	6: 72,395,402 (GRCm39)	Y164*	probably null	Het
Gm20939	T	C	17: 95,184,188 (GRCm39)	F279L	probably damaging	Het
Gm44511	T	C	6: 128,777,017 (GRCm39)		probably benign	Het
Ighv2-2	A	T	12: 113,551,903 (GRCm39)	Y112N	probably damaging	Het
Kansl3	T	C	1: 36,383,148 (GRCm39)		probably benign	Het
Kcnu1	T	A	8: 26,381,611 (GRCm39)	I449K	probably damaging	Het
Lima1	T	C	15: 99,678,687 (GRCm39)	R585G	probably damaging	Het
Lrrk2	T	A	15: 91,662,686 (GRCm39)	V1905E	probably damaging	Het
Map3k6	T	A	4: 132,972,870 (GRCm39)	V343E	probably damaging	Het
Mei1	T	C	15: 81,985,170 (GRCm39)	F279S		Het
Mgat3	A	G	15: 80,096,538 (GRCm39)	D455G	probably damaging	Het
Mycbp2	T	A	14: 103,434,753 (GRCm39)	Q2230L	probably damaging	Het
Myog	T	C	1: 134,218,895 (GRCm39)	F179S	possibly damaging	Het
Nlrc5	A	C	8: 95,199,604 (GRCm39)	I72L	probably damaging	Het
Or2ag1	T	C	7: 106,472,715 (GRCm39)	T246A	probably benign	Het
Or4k2	A	C	14: 50,424,122 (GRCm39)	V185G	probably benign	Het
Or4s2b	T	A	2: 88,508,680 (GRCm39)	H153Q	probably damaging	Het
Or5k15	T	A	16: 58,710,569 (GRCm39)	K5*	probably null	Het
Or5p5	C	T	7: 107,413,821 (GRCm39)	T10I	probably damaging	Het
Pcdh18	A	G	3: 49,707,786 (GRCm39)	L895P	probably damaging	Het
Pibf1	C	T	14: 99,480,345 (GRCm39)	T707M	probably benign	Het
Ptk2b	A	T	14: 66,410,844 (GRCm39)	Y418N	possibly damaging	Het
Ptx4	T	G	17: 25,343,930 (GRCm39)	Y393*	probably null	Het
Sass6	C	A	3: 116,422,354 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Spatc1l	T	C	10: 76,398,264 (GRCm39)	V22A	probably damaging	Het
Strc	T	C	2: 121,195,279 (GRCm39)	E1668G	probably damaging	Het
Sulf2	T	A	2: 165,935,435 (GRCm39)	H226L	probably damaging	Het
Sun5	T	C	2: 153,709,426 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,084,809 (GRCm39)		probably null	Het
Tektl1	C	A	10: 78,588,234 (GRCm39)		probably benign	Het
Xylt2	A	T	11: 94,558,536 (GRCm39)	I540N	probably benign	Het
Zfp804b	T	C	5: 6,820,723 (GRCm39)	N780S	probably benign	Het
Zfp983	T	A	17: 21,876,520 (GRCm39)	M8K	possibly damaging	Het

Other mutations in Gprin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Gprin1	APN	13	54,888,182 (GRCm39)	missense	probably damaging	1.00
IGL02001:Gprin1	APN	13	54,887,005 (GRCm39)	missense	probably damaging	1.00
IGL03188:Gprin1	APN	13	54,886,465 (GRCm39)	missense	probably benign	0.02
IGL03308:Gprin1	APN	13	54,887,957 (GRCm39)	missense	probably benign	0.05
R0980:Gprin1	UTSW	13	54,888,214 (GRCm39)	missense	possibly damaging	0.75
R1638:Gprin1	UTSW	13	54,887,689 (GRCm39)	missense	possibly damaging	0.53
R1942:Gprin1	UTSW	13	54,887,752 (GRCm39)	missense	probably benign	0.36
R2145:Gprin1	UTSW	13	54,886,445 (GRCm39)	missense	probably damaging	0.99
R2215:Gprin1	UTSW	13	54,888,046 (GRCm39)	missense	probably damaging	0.99
R2338:Gprin1	UTSW	13	54,886,238 (GRCm39)	splice site	probably null
R3014:Gprin1	UTSW	13	54,886,288 (GRCm39)	missense	probably benign	0.34
R4634:Gprin1	UTSW	13	54,885,871 (GRCm39)	missense	probably damaging	1.00
R4732:Gprin1	UTSW	13	54,887,770 (GRCm39)	missense	possibly damaging	0.50
R4733:Gprin1	UTSW	13	54,887,770 (GRCm39)	missense	possibly damaging	0.50
R4903:Gprin1	UTSW	13	54,885,742 (GRCm39)	missense	probably damaging	1.00
R4915:Gprin1	UTSW	13	54,885,886 (GRCm39)	missense	probably damaging	1.00
R5102:Gprin1	UTSW	13	54,887,576 (GRCm39)	missense	probably benign	0.06
R5979:Gprin1	UTSW	13	54,887,791 (GRCm39)	missense	probably benign	0.01
R6544:Gprin1	UTSW	13	54,888,124 (GRCm39)	missense	possibly damaging	0.46
R7007:Gprin1	UTSW	13	54,886,069 (GRCm39)	missense	probably damaging	1.00
R7022:Gprin1	UTSW	13	54,886,855 (GRCm39)	missense	probably benign	0.11
R7110:Gprin1	UTSW	13	54,887,056 (GRCm39)	missense	probably benign	0.01
R7385:Gprin1	UTSW	13	54,886,423 (GRCm39)	missense	probably benign	0.09
R7916:Gprin1	UTSW	13	54,887,263 (GRCm39)	missense	possibly damaging	0.61
R8696:Gprin1	UTSW	13	54,885,764 (GRCm39)	missense	probably damaging	1.00
R9151:Gprin1	UTSW	13	54,886,778 (GRCm39)	missense	probably benign	0.22
R9178:Gprin1	UTSW	13	54,885,601 (GRCm39)	missense	probably damaging	1.00
R9398:Gprin1	UTSW	13	54,887,383 (GRCm39)	missense	probably damaging	0.99
R9711:Gprin1	UTSW	13	54,886,714 (GRCm39)	missense	probably benign	0.00
Z1176:Gprin1	UTSW	13	54,888,210 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ATCTGATTGCCTGAGAGAGGACG -3'
(R):5'- ACAGCTTTGGTATCCCCAGG -3'

Sequencing Primer
(F):5'- CTGAGAGAGGACGTGGCCTTATC -3'
(R):5'- AGGTGGATCTCATGACCTCAG -3'

Posted On

2022-03-25