Mutagenetix > Incidental Mutation

Incidental Mutation 'R9631:Qrich2'

725519

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9631 (G1)

Quality Score

118.474

Status

Not validated

Chromosome

Chromosomal Location

116441325-116466241 bp(-) (GRCm38)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG to GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG at 116457541 bp (GRCm38)

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	G	5: 30,482,185	D152G		Het
Atl3	A	G	19: 7,532,188	N427S	probably benign	Het
Bcar3	T	A	3: 122,508,152	D165E	possibly damaging	Het
Brap	T	C	5: 121,684,372	I437T	probably benign	Het
Bspry	T	C	4: 62,482,718		probably null	Het
Camkv	G	T	9: 107,945,791	V77L	probably benign	Het
Capn15	A	T	17: 25,963,435	D566E	probably damaging	Het
Ccar2	A	G	14: 70,151,895	V76A	probably damaging	Het
Ccdc142	T	C	6: 83,107,161	C516R	probably benign	Het
Ccdc92b	T	A	11: 74,630,019	V49E		Het
Ccr7	A	G	11: 99,145,790	V102A	probably benign	Het
Cdh23	A	T	10: 60,407,389	V1069E	possibly damaging	Het
Clpb	T	G	7: 101,785,398	V467G	possibly damaging	Het
Crebzf	T	A	7: 90,443,805	L264Q	probably damaging	Het
Ctif	A	G	18: 75,471,954	F505L	probably benign	Het
Cyp2j5	A	G	4: 96,641,285	I283T	probably benign	Het
Ddx39	C	A	8: 83,721,100	H191Q	possibly damaging	Het
Dnajc9	A	T	14: 20,388,602		probably null	Het
Dock7	A	G	4: 98,966,323	L1568P	unknown	Het
Dpp10	T	C	1: 123,341,703	Y659C	probably damaging	Het
Eef1akmt3	A	G	10: 127,041,292	F35L	probably benign	Het
Etl4	A	T	2: 20,661,938	N52I	probably benign	Het
F5	T	A	1: 164,186,854	C565S	probably damaging	Het
Fam170b	T	C	14: 32,835,684	S159P	probably damaging	Het
Fitm2	A	G	2: 163,469,837	I152T	probably damaging	Het
Fn1	T	C	1: 71,586,228	D2473G	probably benign	Het
Fzd2	C	A	11: 102,606,090	D453E	probably benign	Het
Grm5	T	C	7: 87,975,352	Y376H	probably damaging	Het
H2-Q6	T	A	17: 35,425,316	H91Q	probably benign	Het
Hspa4	A	T	11: 53,269,755	V498E	possibly damaging	Het
Igsf10	A	T	3: 59,330,483	L759H	probably damaging	Het
Jph1	T	C	1: 17,091,383	T352A	probably damaging	Het
Kit	C	T	5: 75,607,029	T24M	possibly damaging	Het
Krtap28-13	T	G	1: 83,061,176	C61G	unknown	Het
Lgr5	T	A	10: 115,466,608	I293F	probably damaging	Het
Lyzl4	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	9: 121,583,989		probably null	Het
Mccc1	C	A	3: 35,960,036	E711*	probably null	Het
Mroh2b	C	T	15: 4,917,074	T452I	probably damaging	Het
Ms4a10	G	A	19: 10,967,087	T111I	probably damaging	Het
Myh11	A	T	16: 14,207,577	V1443E		Het
Oc90	A	G	15: 65,897,780	L76P	probably damaging	Het
Olfr1223	T	C	2: 89,145,178		probably benign	Het
Olfr1308	A	G	2: 111,961,032	F14L	probably benign	Het
Olfr1447	A	G	19: 12,901,138	V214A	possibly damaging	Het
Olfr250	G	A	9: 38,368,418	V281M	possibly damaging	Het
Olfr682-ps1	A	T	7: 105,126,400	I290N	probably damaging	Het
Olfr958	G	A	9: 39,550,212	R220*	probably null	Het
Olfr965	A	T	9: 39,719,865	T213S	possibly damaging	Het
Olfr983	A	G	9: 40,092,927	V13A	probably damaging	Het
Pgr	C	A	9: 8,900,846	Q127K	probably benign	Het
Rfc1	C	T	5: 65,272,508	V852M	probably damaging	Het
Rin2	T	A	2: 145,876,517	L639H	probably damaging	Het
Rpap2	T	A	5: 107,620,426	W377R	probably damaging	Het
Senp7	T	C	16: 56,155,268	S446P	probably benign	Het
Sipa1l1	A	G	12: 82,341,002	M1V	probably null	Het
Slc25a36	A	C	9: 97,100,100	S61A	probably benign	Het
Sptbn2	C	T	19: 4,738,190	R1066W	probably damaging	Het
Tgm6	A	G	2: 130,135,890	S50G	probably benign	Het
Thada	T	C	17: 84,231,156	S1475G	probably benign	Het
Tln1	G	A	4: 43,545,694	A928V	probably damaging	Het
Trip11	G	A	12: 101,893,548	L357F	probably benign	Het
Ttc3	G	T	16: 94,370,722		probably benign	Het
Ttc38	T	C	15: 85,844,458	S204P	possibly damaging	Het
Vmn1r237	A	T	17: 21,314,398	I128F	probably benign	Het
Vmn2r50	A	T	7: 10,053,063	L39*	probably null	Het
Vps4b	A	G	1: 106,780,105	V216A	possibly damaging	Het
Zfp217	T	C	2: 170,114,870	N736S	possibly damaging	Het
Zfp985	A	G	4: 147,581,285	E25G	probably damaging	Het
Zfr	C	T	15: 12,154,542	R604*	probably null	Het
Zscan18	A	G	7: 12,771,730	S577P	possibly damaging	Het

Other mutations in Qrich2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Qrich2	UTSW	11	116456199	small deletion	probably benign
R0122:Qrich2	UTSW	11	116446813	missense	possibly damaging	0.61
R0157:Qrich2	UTSW	11	116441395	missense	probably damaging	1.00
R1479:Qrich2	UTSW	11	116441485	missense	probably benign	0.08
R1786:Qrich2	UTSW	11	116441449	missense	probably damaging	1.00
R2115:Qrich2	UTSW	11	116447156	missense	probably damaging	0.99
R2130:Qrich2	UTSW	11	116448417	splice site	probably benign
R2178:Qrich2	UTSW	11	116443777	missense	probably damaging	1.00
R3875:Qrich2	UTSW	11	116445651	missense	probably damaging	0.98
R4378:Qrich2	UTSW	11	116446915	missense	probably damaging	1.00
R5124:Qrich2	UTSW	11	116446773	missense	probably damaging	1.00
R5362:Qrich2	UTSW	11	116447150	missense	probably damaging	1.00
R5468:Qrich2	UTSW	11	116448365	missense	probably damaging	1.00
R5493:Qrich2	UTSW	11	116445948	critical splice donor site	probably null
R5589:Qrich2	UTSW	11	116441408	missense	probably damaging	1.00
R5696:Qrich2	UTSW	11	116445002	missense	probably damaging	1.00
R6046:Qrich2	UTSW	11	116447006	intron	probably benign
R6183:Qrich2	UTSW	11	116458129	unclassified	probably benign
R6193:Qrich2	UTSW	11	116454153	missense	probably benign	0.07
R6211:Qrich2	UTSW	11	116453542	missense	probably benign	0.41
R6375:Qrich2	UTSW	11	116458228	unclassified	probably benign
R6452:Qrich2	UTSW	11	116455888	missense	probably benign	0.01
R6870:Qrich2	UTSW	11	116455330	missense	probably damaging	0.96
R7073:Qrich2	UTSW	11	116446875	missense	probably damaging	0.98
R7552:Qrich2	UTSW	11	116456254	missense	possibly damaging	0.63
R7585:Qrich2	UTSW	11	116455721	missense	probably benign	0.00
R7586:Qrich2	UTSW	11	116455624	missense	probably benign	0.43
R7588:Qrich2	UTSW	11	116465937	missense	possibly damaging	0.53
R7633:Qrich2	UTSW	11	116456629	missense	unknown
R7638:Qrich2	UTSW	11	116455322	missense	probably benign	0.00
R7736:Qrich2	UTSW	11	116457541	small deletion	probably benign
R7737:Qrich2	UTSW	11	116457541	small deletion	probably benign
R7753:Qrich2	UTSW	11	116457042	small deletion	probably benign
R7800:Qrich2	UTSW	11	116456860	nonsense	probably null
R7833:Qrich2	UTSW	11	116455765	missense	probably benign	0.04
R7912:Qrich2	UTSW	11	116455782	small deletion	probably benign
R7923:Qrich2	UTSW	11	116457337	missense	probably damaging	1.00
R8197:Qrich2	UTSW	11	116457035	small deletion	probably benign
R8225:Qrich2	UTSW	11	116454068	missense	probably damaging	1.00
R8300:Qrich2	UTSW	11	116456349	missense	probably benign	0.04
R8391:Qrich2	UTSW	11	116465577	missense	probably benign	0.00
R8705:Qrich2	UTSW	11	116457541	small deletion	probably benign
R8792:Qrich2	UTSW	11	116456630	missense	unknown
R8912:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9025:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9121:Qrich2	UTSW	11	116456446	missense	unknown
R9130:Qrich2	UTSW	11	116456866	nonsense	probably null
R9219:Qrich2	UTSW	11	116445074	missense	possibly damaging	0.47
R9254:Qrich2	UTSW	11	116458108	missense	unknown
R9256:Qrich2	UTSW	11	116465624	missense	probably benign	0.10
R9288:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9379:Qrich2	UTSW	11	116458108	missense	unknown
R9448:Qrich2	UTSW	11	116447265	missense	probably benign	0.01
R9521:Qrich2	UTSW	11	116448382	missense	probably damaging	1.00
R9620:Qrich2	UTSW	11	116447120	missense	probably damaging	1.00
R9639:Qrich2	UTSW	11	116456098	missense	probably benign	0.00
R9694:Qrich2	UTSW	11	116447120	missense	probably damaging	1.00
Z1176:Qrich2	UTSW	11	116456378	missense	probably benign	0.00
Z1177:Qrich2	UTSW	11	116456668	missense	unknown

Predicted Primers

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

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

Posted On

2022-09-12