Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Qrich2'

596279

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7736 (G1)

Quality Score

136.491

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,319,964	D561A	probably benign	Het
Adgrg1	T	C	8: 95,005,337	F204S	probably benign	Het
Apoa2	T	C	1: 171,226,172	L72P	probably damaging	Het
Arhgef10	A	T	8: 14,980,583	K987*	probably null	Het
Arrb1	A	G	7: 99,539,774	D9G	unknown	Het
Asph	A	G	4: 9,621,930	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,387,164	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,893,790	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,312,105	G261R	probably benign	Het
Cd53	T	A	3: 106,767,936	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,053,520	D366V	probably benign	Het
Ceacam10	G	C	7: 24,781,211	V256L	unknown	Het
Cilp2	A	G	8: 69,881,421	Y976H	probably damaging	Het
Cklf	A	G	8: 104,261,555	T107A	possibly damaging	Het
Dhx16	T	A	17: 35,881,676	W167R	possibly damaging	Het
Dkk2	T	G	3: 132,178,014	L225R	probably damaging	Het
Dmbt1	A	T	7: 131,116,896	D1782V	unknown	Het
Ebag9	A	T	15: 44,628,404	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,477,317	N144D	possibly damaging	Het
Foxk2	A	T	11: 121,299,647	Q538L	possibly damaging	Het
Fpgt	T	G	3: 155,087,110	I427L	probably benign	Het
Ganc	A	T	2: 120,433,814	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379	Y556C	probably damaging	Het
Gga2	A	T	7: 121,990,524	V534E	probably damaging	Het
Gm6904	C	T	14: 59,251,145	D68N	probably benign	Het
Gm7324	T	A	14: 43,714,799	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,615,453	N733K	possibly damaging	Het
Hivep3	C	T	4: 120,095,543	T352I	possibly damaging	Het
Ift88	T	G	14: 57,445,664	V266G	probably benign	Het
Ikbkap	T	C	4: 56,776,920	T626A	possibly damaging	Het
Ip6k1	G	T	9: 108,045,692	G341V	probably damaging	Het
Itga3	G	T	11: 95,076,203	A45E	probably damaging	Het
Kctd14	T	A	7: 97,457,940	L134Q	probably damaging	Het
Lats1	C	A	10: 7,702,364	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,497,459	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,630,360	T444A	probably benign	Het
M1ap	T	C	6: 83,005,584	I283T	probably benign	Het
Mapre2	T	C	18: 23,877,955	S207P	probably benign	Het
Moxd1	T	C	10: 24,282,710	F421L	probably damaging	Het
Nos2	T	A	11: 78,922,366	C33*	probably null	Het
Olfr115	A	T	17: 37,610,412	L113H	probably damaging	Het
Olfr154	T	C	2: 85,664,414	T7A	probably damaging	Het
Olfr345	A	T	2: 36,640,185	I49F	probably damaging	Het
Otud4	T	C	8: 79,655,765	I201T	possibly damaging	Het
Pank4	T	C	4: 154,969,747	Y128H	probably benign	Het
Pitpnm2	A	G	5: 124,123,030	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,969,623	V8A	probably benign	Het
Por	A	G	5: 135,731,122	E221G	probably damaging	Het
Prokr2	A	T	2: 132,381,580	L14*	probably null	Het
Ptgis	A	G	2: 167,191,971	F459S	unknown	Het
Ptpru	T	C	4: 131,788,382	E887G	probably damaging	Het
Slc18a1	A	G	8: 69,065,554		probably null	Het
Slc27a3	A	G	3: 90,389,433	S120P	probably benign	Het
Slc2a12	T	A	10: 22,664,818	Y191N	probably damaging	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Syncrip	A	G	9: 88,461,668		probably null	Het
Taar4	T	A	10: 23,960,999	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,032,466	G237D	probably benign	Het
Tle1	T	C	4: 72,199,334	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,940,568	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455	F698L	probably benign	Het
Ttn	T	A	2: 76,909,230	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,452,891	R685K	probably benign	Het
Ylpm1	C	A	12: 85,012,983	A321E	unknown	Het
Zdbf2	T	A	1: 63,308,007	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,169,532	N61K	probably null	Het
Zfp867	C	T	11: 59,463,190	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,195,509	T404I	probably benign	Het
Zrsr1	C	T	11: 22,973,510	Q95*	probably null	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
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
R9631:Qrich2	UTSW	11	116457541	small deletion	probably benign
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'- AGATCAGCTTGATATGGCACAAC -3'

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

Posted On

2019-11-26