Mutagenetix > Incidental Mutation

Incidental Mutation 'R8912:Qrich2'

678703

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

068765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R8912 (G1)

Quality Score

122.592

Status

Not validated

Chromosome

Chromosomal Location

116332151-116357067 bp(-) (GRCm39)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG to GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG at 116348367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093909] [ENSMUST00000208602]

AlphaFold

Q3V2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000093909

SMART Domains

Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Pfam:DUF4795	97	304	3.7e-71	PFAM
low complexity region	471	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208602

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	C	T	5: 113,861,767 (GRCm39)	W34*	probably null	Het
Adck5	T	C	15: 76,477,435 (GRCm39)	S90P	probably damaging	Het
Adgra3	C	A	5: 50,118,273 (GRCm39)	A1092S	possibly damaging	Het
Arhgap33	A	T	7: 30,232,467 (GRCm39)		probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,979 (GRCm39)		probably null	Het
Brd2	A	T	17: 34,332,458 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,260,097 (GRCm39)		probably benign	Het
Ciao1	A	G	2: 127,088,599 (GRCm39)	V108A	possibly damaging	Het
Clba1	T	C	12: 112,779,323 (GRCm39)	V320A	possibly damaging	Het
Dnah3	T	A	7: 119,689,869 (GRCm39)	H22L	probably benign	Het
Dnajc6	A	G	4: 101,468,513 (GRCm39)	Y251C	probably damaging	Het
Dsg2	T	A	18: 20,715,878 (GRCm39)	N273K	probably damaging	Het
Egf	A	G	3: 129,531,164 (GRCm39)	V137A	possibly damaging	Het
Ercc6	C	T	14: 32,248,211 (GRCm39)	P254L	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fbln2	A	G	6: 91,240,420 (GRCm39)	E789G	possibly damaging	Het
Fbxl13	T	G	5: 21,727,184 (GRCm39)	D571A	probably damaging	Het
Fbxw26	T	A	9: 109,561,717 (GRCm39)	E159V	probably damaging	Het
Fndc1	T	C	17: 8,019,778 (GRCm39)	I134V	probably null	Het
Fsip2	A	G	2: 82,810,938 (GRCm39)	D2419G	probably benign	Het
Gm3371	T	C	14: 44,641,238 (GRCm39)	K109E		Het
Gm5414	A	G	15: 101,536,620 (GRCm39)	S2P	possibly damaging	Het
Igkv1-110	G	T	6: 68,247,950 (GRCm39)	D20Y	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ippk	A	G	13: 49,603,513 (GRCm39)	D422G	probably damaging	Het
Irs2	A	T	8: 11,056,655 (GRCm39)	D592E	probably damaging	Het
Klra9	A	G	6: 130,159,368 (GRCm39)	I215T	probably damaging	Het
Lrrc8b	T	A	5: 105,629,424 (GRCm39)	L590Q	probably damaging	Het
Myh10	A	G	11: 68,680,929 (GRCm39)		probably null	Het
Neto1	A	G	18: 86,479,173 (GRCm39)	D159G	probably damaging	Het
Nr1d2	T	C	14: 18,220,030 (GRCm38)	K104E	probably damaging	Het
Nrcam	T	C	12: 44,645,366 (GRCm39)	V1256A	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Or13e8	T	A	4: 43,697,017 (GRCm39)	D52V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Or9m1b	C	T	2: 87,836,661 (GRCm39)	A145T	possibly damaging	Het
Patj	A	G	4: 98,385,565 (GRCm39)	H444R		Het
Pclo	T	C	5: 14,825,335 (GRCm39)	L1356P		Het
Pde4dip	A	G	3: 97,617,633 (GRCm39)	S1732P	probably damaging	Het
Pi4ka	A	T	16: 17,207,230 (GRCm39)	I25N		Het
Pira13	A	T	7: 3,825,818 (GRCm39)	D350E	unknown	Het
Pou2f3	C	A	9: 43,110,336 (GRCm39)	V30L	probably benign	Het
Reck	T	A	4: 43,938,802 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,475,323 (GRCm39)		probably benign	Het
Serinc1	A	C	10: 57,400,075 (GRCm39)	S191A	probably benign	Het
Sgo2a	T	C	1: 58,056,560 (GRCm39)	S915P	probably damaging	Het
Sgsh	T	C	11: 119,243,486 (GRCm39)	T79A	probably damaging	Het
Sik1	A	G	17: 32,069,919 (GRCm39)	V207A	possibly damaging	Het
Skap1	A	T	11: 96,644,902 (GRCm39)	I338F	probably damaging	Het
Skic3	T	A	13: 76,305,361 (GRCm39)		probably benign	Het
Sowahc	G	T	10: 59,057,813 (GRCm39)		probably benign	Het
Spata31d1d	T	C	13: 59,875,136 (GRCm39)	K800E	possibly damaging	Het
Spin1	T	A	13: 51,298,433 (GRCm39)	W151R	probably damaging	Het
Srfbp1	A	G	18: 52,623,686 (GRCm39)	T438A	possibly damaging	Het
Srrm2	A	G	17: 24,038,575 (GRCm39)	T1740A	probably benign	Het
Tacr1	A	T	6: 82,534,014 (GRCm39)	S347C	probably damaging	Het
Taf1b	T	C	12: 24,566,860 (GRCm39)	S185P	possibly damaging	Het
Tanc2	C	T	11: 105,758,153 (GRCm39)	T638I	probably benign	Het
Tdrkh	T	C	3: 94,336,478 (GRCm39)	Y472H	probably damaging	Het
Trav4-2	C	G	14: 53,656,266 (GRCm39)	Y89*	probably null	Het
Trpm1	G	T	7: 63,918,628 (GRCm39)	R1540L	probably benign	Het
Ttc21a	T	C	9: 119,770,367 (GRCm39)		probably null	Het
Tti1	A	G	2: 157,851,188 (GRCm39)	V17A	probably benign	Het
Vamp8	A	G	6: 72,365,276 (GRCm39)	L44P	probably benign	Het
Vmn1r63	G	T	7: 5,806,131 (GRCm39)	S167Y	probably damaging	Het
Xrn2	T	C	2: 146,891,913 (GRCm39)	V710A	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfyve28	T	C	5: 34,374,655 (GRCm39)	D453G	probably benign	Het

Other mutations in Qrich2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Qrich2	UTSW	11	116,347,025 (GRCm39)	small deletion	probably benign
R0122:Qrich2	UTSW	11	116,337,639 (GRCm39)	missense	possibly damaging	0.61
R0157:Qrich2	UTSW	11	116,332,221 (GRCm39)	missense	probably damaging	1.00
R1479:Qrich2	UTSW	11	116,332,311 (GRCm39)	missense	probably benign	0.08
R1786:Qrich2	UTSW	11	116,332,275 (GRCm39)	missense	probably damaging	1.00
R2115:Qrich2	UTSW	11	116,337,982 (GRCm39)	missense	probably damaging	0.99
R2130:Qrich2	UTSW	11	116,339,243 (GRCm39)	splice site	probably benign
R2178:Qrich2	UTSW	11	116,334,603 (GRCm39)	missense	probably damaging	1.00
R3875:Qrich2	UTSW	11	116,336,477 (GRCm39)	missense	probably damaging	0.98
R4378:Qrich2	UTSW	11	116,337,741 (GRCm39)	missense	probably damaging	1.00
R5124:Qrich2	UTSW	11	116,337,599 (GRCm39)	missense	probably damaging	1.00
R5362:Qrich2	UTSW	11	116,337,976 (GRCm39)	missense	probably damaging	1.00
R5468:Qrich2	UTSW	11	116,339,191 (GRCm39)	missense	probably damaging	1.00
R5493:Qrich2	UTSW	11	116,336,774 (GRCm39)	critical splice donor site	probably null
R5589:Qrich2	UTSW	11	116,332,234 (GRCm39)	missense	probably damaging	1.00
R5696:Qrich2	UTSW	11	116,335,828 (GRCm39)	missense	probably damaging	1.00
R6046:Qrich2	UTSW	11	116,337,832 (GRCm39)	intron	probably benign
R6183:Qrich2	UTSW	11	116,348,955 (GRCm39)	unclassified	probably benign
R6193:Qrich2	UTSW	11	116,344,979 (GRCm39)	missense	probably benign	0.07
R6211:Qrich2	UTSW	11	116,344,368 (GRCm39)	missense	probably benign	0.41
R6375:Qrich2	UTSW	11	116,349,054 (GRCm39)	unclassified	probably benign
R6452:Qrich2	UTSW	11	116,346,714 (GRCm39)	missense	probably benign	0.01
R6870:Qrich2	UTSW	11	116,346,156 (GRCm39)	missense	probably damaging	0.96
R7073:Qrich2	UTSW	11	116,337,701 (GRCm39)	missense	probably damaging	0.98
R7552:Qrich2	UTSW	11	116,347,080 (GRCm39)	missense	possibly damaging	0.63
R7585:Qrich2	UTSW	11	116,346,547 (GRCm39)	missense	probably benign	0.00
R7586:Qrich2	UTSW	11	116,346,450 (GRCm39)	missense	probably benign	0.43
R7588:Qrich2	UTSW	11	116,356,763 (GRCm39)	missense	possibly damaging	0.53
R7633:Qrich2	UTSW	11	116,347,455 (GRCm39)	missense	unknown
R7638:Qrich2	UTSW	11	116,346,148 (GRCm39)	missense	probably benign	0.00
R7736:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R7737:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R7753:Qrich2	UTSW	11	116,347,868 (GRCm39)	small deletion	probably benign
R7800:Qrich2	UTSW	11	116,347,686 (GRCm39)	nonsense	probably null
R7833:Qrich2	UTSW	11	116,346,591 (GRCm39)	missense	probably benign	0.04
R7912:Qrich2	UTSW	11	116,346,608 (GRCm39)	small deletion	probably benign
R7923:Qrich2	UTSW	11	116,348,163 (GRCm39)	missense	probably damaging	1.00
R8197:Qrich2	UTSW	11	116,347,861 (GRCm39)	small deletion	probably benign
R8225:Qrich2	UTSW	11	116,344,894 (GRCm39)	missense	probably damaging	1.00
R8300:Qrich2	UTSW	11	116,347,175 (GRCm39)	missense	probably benign	0.04
R8391:Qrich2	UTSW	11	116,356,403 (GRCm39)	missense	probably benign	0.00
R8705:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R8792:Qrich2	UTSW	11	116,347,456 (GRCm39)	missense	unknown
R9025:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9121:Qrich2	UTSW	11	116,347,272 (GRCm39)	missense	unknown
R9130:Qrich2	UTSW	11	116,347,692 (GRCm39)	nonsense	probably null
R9219:Qrich2	UTSW	11	116,335,900 (GRCm39)	missense	possibly damaging	0.47
R9254:Qrich2	UTSW	11	116,348,934 (GRCm39)	missense	unknown
R9256:Qrich2	UTSW	11	116,356,450 (GRCm39)	missense	probably benign	0.10
R9288:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9379:Qrich2	UTSW	11	116,348,934 (GRCm39)	missense	unknown
R9448:Qrich2	UTSW	11	116,338,091 (GRCm39)	missense	probably benign	0.01
R9521:Qrich2	UTSW	11	116,339,208 (GRCm39)	missense	probably damaging	1.00
R9620:Qrich2	UTSW	11	116,337,946 (GRCm39)	missense	probably damaging	1.00
R9631:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9639:Qrich2	UTSW	11	116,346,924 (GRCm39)	missense	probably benign	0.00
R9694:Qrich2	UTSW	11	116,337,946 (GRCm39)	missense	probably damaging	1.00
Z1176:Qrich2	UTSW	11	116,347,204 (GRCm39)	missense	probably benign	0.00
Z1177:Qrich2	UTSW	11	116,347,494 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGCCAGGCTGAACTGAACC -3'
(R):5'- GATCAGCTTGATATGGCACAAC -3'

Sequencing Primer
(F):5'- TGAGCTGCACCTGCTTG -3'
(R):5'- ACCACATGGAATTCTGCCTGG -3'

Posted On

2021-08-02