Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Cpq'

429439

Institutional Source

Beutler Lab

Gene Symbol

Cpq

Ensembl Gene

ENSMUSG00000039007

Gene Name

carboxypeptidase Q

Synonyms

Lal-1, HLS2, Pgcp, 2610034C17Rik, 1190003P12Rik

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33083275-33594698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33213250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 90 (Y90D)

Ref Sequence

ENSEMBL: ENSMUSP00000153768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042167] [ENSMUST00000226483] [ENSMUST00000228737] [ENSMUST00000228916]

AlphaFold

Q9WVJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000042167
AA Change: Y90D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: Y90D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	186	199	N/A	INTRINSIC
Pfam:Peptidase_M28	268	457	5.9e-29	PFAM
Pfam:Peptidase_M20	284	457	1.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226483
AA Change: Y90D

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226896

Predicted Effect

probably benign
Transcript: ENSMUST00000228737
AA Change: Y90D

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000228916
AA Change: Y90D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0970

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Adam11	A	G	11: 102,664,479 (GRCm39)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Depdc1a	G	A	3: 159,229,591 (GRCm39)		probably null	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fads2	A	G	19: 10,041,649 (GRCm39)	L438P	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,088,035 (GRCm39)	S174R	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,653,975 (GRCm39)	T214S	probably benign	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,635,914 (GRCm39)	D94G	probably damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	probably benign	Het

Other mutations in Cpq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Cpq	APN	15	33,497,433 (GRCm39)	missense	probably benign
IGL01773:Cpq	APN	15	33,212,996 (GRCm39)	missense	probably benign	0.42
IGL02406:Cpq	APN	15	33,302,654 (GRCm39)	missense	probably damaging	1.00
IGL02527:Cpq	APN	15	33,302,509 (GRCm39)	missense	probably damaging	1.00
IGL02596:Cpq	APN	15	33,213,160 (GRCm39)	missense	probably damaging	1.00
IGL02642:Cpq	APN	15	33,381,546 (GRCm39)	missense	probably damaging	0.99
IGL03382:Cpq	APN	15	33,213,089 (GRCm39)	missense	probably damaging	0.96
R0309:Cpq	UTSW	15	33,594,297 (GRCm39)	missense	probably damaging	1.00
R1545:Cpq	UTSW	15	33,250,146 (GRCm39)	missense	probably damaging	1.00
R1698:Cpq	UTSW	15	33,250,272 (GRCm39)	missense	probably benign	0.45
R1967:Cpq	UTSW	15	33,497,348 (GRCm39)	missense	possibly damaging	0.65
R2321:Cpq	UTSW	15	33,594,291 (GRCm39)	missense	probably benign
R2431:Cpq	UTSW	15	33,594,265 (GRCm39)	nonsense	probably null
R4705:Cpq	UTSW	15	33,497,484 (GRCm39)	missense	probably benign
R5087:Cpq	UTSW	15	33,213,008 (GRCm39)	missense	probably benign	0.08
R5790:Cpq	UTSW	15	33,250,143 (GRCm39)	missense	probably damaging	1.00
R6347:Cpq	UTSW	15	33,290,332 (GRCm39)	splice site	probably null
R7319:Cpq	UTSW	15	33,250,185 (GRCm39)	missense	probably benign	0.02
R7495:Cpq	UTSW	15	33,302,586 (GRCm39)	missense	probably damaging	0.98
R7711:Cpq	UTSW	15	33,497,493 (GRCm39)	missense	probably benign	0.04
R7806:Cpq	UTSW	15	33,497,443 (GRCm39)	missense	possibly damaging	0.83
R7945:Cpq	UTSW	15	33,594,382 (GRCm39)	missense	probably benign
R8440:Cpq	UTSW	15	33,213,341 (GRCm39)	missense	possibly damaging	0.93
R8944:Cpq	UTSW	15	33,594,269 (GRCm39)	missense	probably damaging	1.00
R8991:Cpq	UTSW	15	33,213,353 (GRCm39)	missense	probably damaging	0.99
R8992:Cpq	UTSW	15	33,594,381 (GRCm39)	missense	probably benign	0.05
R9431:Cpq	UTSW	15	33,250,078 (GRCm39)	missense	probably benign	0.12
R9445:Cpq	UTSW	15	33,213,391 (GRCm39)	missense	possibly damaging	0.62
R9650:Cpq	UTSW	15	33,497,405 (GRCm39)	missense	possibly damaging	0.82
X0063:Cpq	UTSW	15	33,213,398 (GRCm39)	missense	probably damaging	1.00
Z1176:Cpq	UTSW	15	33,381,537 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACAATGAGGTCCCTTTTCTTC -3'
(R):5'- AAAACGCAGTACCTCCTGGG -3'

Sequencing Primer
(F):5'- CAAGAATGGTGTTTCTCAGCGAAC -3'
(R):5'- GGGAGTCCCAATGCTGCTG -3'

Posted On

2016-09-06