Mutagenetix > Incidental Mutation

Incidental Mutation 'R9639:Qrich2'

725883

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: 0.066) question?

Stock #

R9639 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116332151-116357067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116346924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1300 (P1300L)

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
AA Change: P1300L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,893,345 (GRCm39)	D1265G	probably benign	Het
Baz2b	T	A	2: 59,731,828 (GRCm39)	N2070I	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Chd9	A	T	8: 91,760,840 (GRCm39)	E2195V	probably null	Het
Cracd	T	C	5: 77,005,997 (GRCm39)	V786A	unknown	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Egf	T	C	3: 129,513,949 (GRCm39)	T421A	possibly damaging	Het
Fbxo11	A	G	17: 88,316,107 (GRCm39)	V365A		Het
Gmps	T	A	3: 63,922,938 (GRCm39)	S634T	probably damaging	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Lyplal1	A	T	1: 185,849,409 (GRCm39)	C13*	probably null	Het
Mycbp2	A	G	14: 103,433,817 (GRCm39)	W2255R	probably damaging	Het
Myo5c	C	A	9: 75,165,477 (GRCm39)	H428Q	probably damaging	Het
Nrap	T	C	19: 56,333,948 (GRCm39)	T1005A	possibly damaging	Het
Or2bd2	A	T	7: 6,443,290 (GRCm39)	R130S	probably benign	Het
Pcdh12	C	T	18: 38,402,032 (GRCm39)	M1123I	probably damaging	Het
Pdzrn3	A	G	6: 101,146,172 (GRCm39)	S393P	probably benign	Het
Pgr	A	T	9: 8,900,994 (GRCm39)	S176C	possibly damaging	Het
Ppp2r3d	T	C	9: 101,022,713 (GRCm39)	N312S	probably benign	Het
Sap130	T	C	18: 31,844,789 (GRCm39)		probably null	Het
Slc15a3	T	A	19: 10,820,717 (GRCm39)	Y111*	probably null	Het
Slc26a9	A	G	1: 131,678,409 (GRCm39)	E25G	probably damaging	Het
Slc2a3	A	G	6: 122,714,199 (GRCm39)	F110L	probably benign	Het
Spesp1	A	T	9: 62,180,238 (GRCm39)	D223E	possibly damaging	Het
St18	T	C	1: 6,929,246 (GRCm39)	I46T		Het
Trmt6	T	A	2: 132,650,862 (GRCm39)	K249*	probably null	Het
Ttll10	A	T	4: 156,119,503 (GRCm39)	I632K	probably benign	Het
Vmn1r216	A	G	13: 23,283,518 (GRCm39)	N67S	probably benign	Het
Vmn1r28	C	T	6: 58,242,996 (GRCm39)	Q280*	probably null	Het
Vmn2r38	T	G	7: 9,078,063 (GRCm39)	D773A	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Ywhae	G	A	11: 75,650,248 (GRCm39)	G237S	probably benign	Het
Zswim5	A	G	4: 116,836,714 (GRCm39)	E666G	probably damaging	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
R8912:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
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
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'- TGCAGTAAGCCACGCCTTTC -3'
(R):5'- ACAGCCTATAGTGGACCAGAG -3'

Sequencing Primer
(F):5'- AGTAAGCCACGCCTTTCTTCCC -3'
(R):5'- GCTTGGTACAGCCTAGAATGTACC -3'

Posted On

2022-09-12