Mutagenetix > Incidental Mutation

Incidental Mutation 'R2178:Qrich2'

237013

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

040180-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R2178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116441325-116466241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116443777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2194 (D2194G)

Ref Sequence

ENSEMBL: ENSMUSP00000147009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057676] [ENSMUST00000093909] [ENSMUST00000208602]

AlphaFold

Q3V2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000057676

SMART Domains

Protein: ENSMUSP00000058894
Gene: ENSMUSG00000050628

Domain	Start	End	E-Value	Type
Pfam:UBA_4	11	53	1.8e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093909
AA Change: D449G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: D449G

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

noncoding transcript
Transcript: ENSMUST00000134182

SMART Domains

Protein: ENSMUSP00000115947
Gene: ENSMUSG00000070331

Domain	Start	End	E-Value	Type
Blast:MYSc	1	287	4e-80	BLAST
coiled coil region	336	351	N/A	INTRINSIC
low complexity region	602	622	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140697

Predicted Effect

probably damaging
Transcript: ENSMUST00000208602
AA Change: D2194G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	A	T	15: 98,594,355	N1007K	probably damaging	Het
Apon	C	A	10: 128,254,765	A104E	probably benign	Het
Cdh15	T	A	8: 122,864,976		probably null	Het
Cep135	T	C	5: 76,631,450	V769A	probably benign	Het
Cep152	A	T	2: 125,580,034		probably null	Het
Clca1	T	C	3: 145,006,102	N711D	probably damaging	Het
Col1a2	T	C	6: 4,531,143	F731L	unknown	Het
Cpt1b	T	C	15: 89,419,043	E603G	probably damaging	Het
Cspp1	T	G	1: 10,104,246	D641E	possibly damaging	Het
Ddr2	C	T	1: 169,994,682	R399Q	probably benign	Het
Dzip1	T	C	14: 118,889,404		probably null	Het
Gm13089	A	T	4: 143,698,042	I277K	possibly damaging	Het
Greb1	A	G	12: 16,696,387	V1294A	probably damaging	Het
Hmgb4	A	G	4: 128,260,482	S98P	probably damaging	Het
Kif12	G	A	4: 63,166,959	P515L	probably benign	Het
Kmt5b	A	C	19: 3,815,372	E789A	possibly damaging	Het
Lama1	G	T	17: 67,769,515	V1095F	probably benign	Het
Leprot	T	C	4: 101,656,111	V32A	probably benign	Het
Mcoln1	A	G	8: 3,508,766	T255A	probably damaging	Het
Mertk	G	A	2: 128,793,064	E765K	probably damaging	Het
Muc5b	A	G	7: 141,864,116	T3600A	possibly damaging	Het
Ncapd3	A	T	9: 27,088,549	E1395V	probably benign	Het
Ntrk2	T	C	13: 58,808,802	F25S	probably benign	Het
Olfr1348	G	T	7: 6,501,488	A246D	probably damaging	Het
Olfr1356	T	A	10: 78,847,778	I46F	probably damaging	Het
Olfr448	A	G	6: 42,896,798	M116V	probably benign	Het
Pappa	C	A	4: 65,351,687	H1613N	probably benign	Het
Polq	T	C	16: 37,062,829	V1785A	probably damaging	Het
Prkar2a	T	C	9: 108,740,538		probably null	Het
Rnf183	T	C	4: 62,428,096	N155S	probably benign	Het
S1pr5	T	C	9: 21,244,464	N222S	probably benign	Het
Scnn1a	C	T	6: 125,331,002	R170C	probably damaging	Het
Slc25a2	T	C	18: 37,638,258	T73A	probably benign	Het
Tgfb1	A	G	7: 25,704,809	N347S	probably damaging	Het
Ticrr	T	C	7: 79,665,685	V229A	probably benign	Het
Tjp3	T	C	10: 81,280,107	E313G	probably benign	Het
Tnfsf11	A	G	14: 78,284,242	S176P	probably benign	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vps39	C	A	2: 120,323,679	E612*	probably null	Het
Vwf	T	A	6: 125,642,132	Y1258N	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
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
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'- CTGCTCTCCACTAGAAAGCAGC -3'
(R):5'- TCAGACCAGACTCCATGCAG -3'

Sequencing Primer
(F):5'- CCACTTGGCTTCAGGAGGAG -3'
(R):5'- ATATATCTCCCAGACTGGCCTTGAAG -3'

Posted On

2014-10-02