Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Gprin1'

696850

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

068978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9178 (G1)

Quality Score

183.009

Status

Not validated

Chromosome

Chromosomal Location

54884484-54897486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54885601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 891 (R891H)

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: R891H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: R891H

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: R891H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: R891H

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,880,992 (GRCm39)	T146S	unknown	Het
Abca8b	A	T	11: 109,840,937 (GRCm39)	F1079I	probably benign	Het
Adcy10	A	T	1: 165,403,218 (GRCm39)	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,312,846 (GRCm39)	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448 (GRCm39)		probably benign	Het
Apc2	G	A	10: 80,150,235 (GRCm39)	G1763E	probably benign	Het
Bmp1	G	T	14: 70,727,613 (GRCm39)	R657S	possibly damaging	Het
Calm1	G	A	12: 100,171,979 (GRCm39)		probably null	Het
Ccdc150	C	A	1: 54,311,644 (GRCm39)	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 179,958,401 (GRCm39)	I275T		Het
Cfap54	G	T	10: 92,830,579 (GRCm39)	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,659,169 (GRCm39)	V592A	probably benign	Het
Colec11	A	T	12: 28,644,854 (GRCm39)	N213K	possibly damaging	Het
Dennd2b	C	T	7: 109,156,291 (GRCm39)	G153D	probably benign	Het
Dennd5b	G	A	6: 148,934,844 (GRCm39)	R676*	probably null	Het
Dnaaf5	T	G	5: 139,138,652 (GRCm39)	Y278D	probably damaging	Het
Dop1a	T	A	9: 86,371,796 (GRCm39)	Y162*	probably null	Het
Dync1li2	A	G	8: 105,150,255 (GRCm39)	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,883,276 (GRCm39)	T505A	probably benign	Het
Ebf1	A	G	11: 44,895,548 (GRCm39)	I584M	probably benign	Het
Eif1ad17	A	G	12: 87,978,786 (GRCm39)	R57G	probably damaging	Het
Frmpd1	T	C	4: 45,285,367 (GRCm39)	L1396P	probably damaging	Het
Gart	A	T	16: 91,430,904 (GRCm39)	V386D	possibly damaging	Het
Gsap	G	A	5: 21,422,471 (GRCm39)	V147I	probably damaging	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Hmcn2	T	C	2: 31,281,521 (GRCm39)	V1912A	possibly damaging	Het
Icos	G	T	1: 61,034,714 (GRCm39)	S179I	probably damaging	Het
Ifi209	T	C	1: 173,464,969 (GRCm39)	L33P	probably damaging	Het
Igsf10	A	G	3: 59,233,480 (GRCm39)	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,677,780 (GRCm39)	Y252C	probably damaging	Het
Ints6	A	T	14: 62,947,036 (GRCm39)	S310T	probably damaging	Het
Kcng1	A	T	2: 168,111,105 (GRCm39)	S20T	possibly damaging	Het
Klf15	T	C	6: 90,444,091 (GRCm39)	I222T	probably damaging	Het
Lmo7	A	T	14: 102,044,906 (GRCm39)	K53*	probably null	Het
Map10	C	A	8: 126,397,649 (GRCm39)	N347K	probably damaging	Het
Mrps11	C	A	7: 78,440,444 (GRCm39)	T111K	probably damaging	Het
Myom3	T	G	4: 135,506,710 (GRCm39)	D494E	probably benign	Het
Naalad2	T	A	9: 18,242,152 (GRCm39)	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,826,050 (GRCm39)	V9A	probably benign	Het
Nrcam	G	T	12: 44,615,329 (GRCm39)	V640F	possibly damaging	Het
Or10x4	C	T	1: 174,219,229 (GRCm39)	T198I	probably benign	Het
Or2t48	C	A	11: 58,420,473 (GRCm39)	G113V	probably damaging	Het
Or52d1	T	C	7: 103,755,720 (GRCm39)	M78T	probably benign	Het
Or5ak23	G	A	2: 85,244,848 (GRCm39)	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,860,892 (GRCm39)	H649Q	probably benign	Het
Pdk1	C	A	2: 71,730,402 (GRCm39)	H413Q	probably benign	Het
Pfkm	T	A	15: 98,027,161 (GRCm39)	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,842,535 (GRCm39)	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,443,993 (GRCm39)	M406K	probably benign	Het
Ptf1a	C	T	2: 19,450,536 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,295,264 (GRCm39)	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,411,211 (GRCm39)	T166A	possibly damaging	Het
Sav1	A	T	12: 70,022,790 (GRCm39)	V254E	probably damaging	Het
Sel1l	T	C	12: 91,797,526 (GRCm39)	N234D	probably benign	Het
Setd1a	C	T	7: 127,385,590 (GRCm39)	P766S	possibly damaging	Het
Skida1	T	A	2: 18,050,489 (GRCm39)	K801*	probably null	Het
Slc22a5	G	A	11: 53,774,547 (GRCm39)	T146I	probably benign	Het
Slc25a24	G	T	3: 109,064,268 (GRCm39)	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,733,970 (GRCm39)	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,930,058 (GRCm39)	D46E	probably damaging	Het
Tekt4	C	T	17: 25,690,901 (GRCm39)	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,804,878 (GRCm39)	F239Y	probably benign	Het
Tpp1	T	A	7: 105,400,846 (GRCm39)	R60S	probably benign	Het
Trank1	A	T	9: 111,196,268 (GRCm39)	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,797,519 (GRCm39)	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,568,396 (GRCm39)	S300P	probably damaging	Het
Urah	T	A	7: 140,417,587 (GRCm39)	L119Q	unknown	Het
Uspl1	T	A	5: 149,141,148 (GRCm39)	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,975,574 (GRCm39)	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,640,933 (GRCm39)	V88I	probably benign	Het
Zfp444	T	C	7: 6,191,157 (GRCm39)	S113P	probably damaging	Het
Zfp580	T	G	7: 5,056,152 (GRCm39)	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,577,382 (GRCm39)	I151V	probably benign	Het
Zfp827	T	C	8: 79,818,564 (GRCm39)	F614S	probably damaging	Het
Zic4	A	T	9: 91,260,913 (GRCm39)	Q56L	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
R9285:Gprin1	UTSW	13	54,886,523 (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'- TAGCTTTCAAGGGCCAGAC -3'
(R):5'- TCGCGACAACTTCACCAAGG -3'

Sequencing Primer
(F):5'- TTTCAAGGGCCAGACCTCGAG -3'
(R):5'- TGAGCCCCATGTCTCCG -3'

Posted On

2022-02-07