Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Gprin1'

551467

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

045202-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54884484-54897486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54887056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 406 (D406G)

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 benign
Transcript: ENSMUST00000099506
AA Change: D406G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: D406G

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 benign
Transcript: ENSMUST00000135343
AA Change: D406G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: D406G

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Cog7	T	C	7: 121,534,999 (GRCm39)	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Klhl18	T	A	9: 110,279,833 (GRCm39)	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Ly75	A	G	2: 60,206,528 (GRCm39)	I47T	probably benign	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Or7a42	A	T	10: 78,791,284 (GRCm39)	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Proc	A	T	18: 32,266,441 (GRCm39)	F129I	probably benign	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slc7a10	A	G	7: 34,899,009 (GRCm39)	H360R	probably benign	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	probably benign	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
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
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'- TTGCTTGAAGCCAGGGGATC -3'
(R):5'- ACAGTACAGGACCTTCAGGC -3'

Sequencing Primer
(F):5'- GAGACTTGCCTTCTTCCAGGG -3'
(R):5'- TACAGGACCTTCAGGCAGAGC -3'

Posted On

2019-05-15