Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Qrich2'

164219

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116332151-116357067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116332311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 2295 (H2295P)

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

probably benign
Transcript: ENSMUST00000093909
AA Change: H550P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: H550P

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

noncoding transcript
Transcript: ENSMUST00000144310

Predicted Effect

probably benign
Transcript: ENSMUST00000208602
AA Change: H2295P

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,201,059 (GRCm39)	N326K	probably benign	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dclk3	G	A	9: 111,297,614 (GRCm39)	S386N	probably benign	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,711,314 (GRCm39)	N241D	probably damaging	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prdx6	G	A	1: 161,071,833 (GRCm39)	A111V	probably damaging	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,153,019 (GRCm39)	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	possibly 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
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
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'- CTGTCTGAGTGCATCATCCCAACC -3'
(R):5'- CCTTGAGCAAGCTAGAGTGAACCC -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- GCTAGAGTGAACCCTGGTG -3'

Posted On

2014-03-28