Mutagenetix > Incidental Mutation

Incidental Mutation 'R9431:Cpq'

712977

Institutional Source

Beutler Lab

Gene Symbol

Cpq

Ensembl Gene

ENSMUSG00000039007

Gene Name

carboxypeptidase Q

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R9431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33083275-33594698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33250078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 145 (T145I)

Ref Sequence

ENSEMBL: ENSMUSP00000039046 (fasta)

Gene Model

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

AlphaFold

Q9WVJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000042167
AA Change: T145I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: T145I

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

probably benign
Transcript: ENSMUST00000228737
AA Change: T145I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000228916
AA Change: T145I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	C	5: 88,120,325 (GRCm39)	I361L	possibly damaging	Het
Aebp2	C	T	6: 140,592,594 (GRCm39)	P446L	probably damaging	Het
Arhgap32	C	A	9: 32,170,463 (GRCm39)	A1081D	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdc73	T	A	1: 143,545,740 (GRCm39)	K299*	probably null	Het
Creb1	C	A	1: 64,615,413 (GRCm39)	A215E	probably damaging	Het
D630045J12Rik	G	T	6: 38,173,814 (GRCm39)	A118E	probably benign	Het
Dnah7a	A	T	1: 53,450,812 (GRCm39)	F3873I	possibly damaging	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Evi5	A	G	5: 107,990,150 (GRCm39)	V23A	probably damaging	Het
Fat2	T	C	11: 55,142,838 (GRCm39)	D4337G	probably damaging	Het
Fbxl17	G	A	17: 63,387,489 (GRCm39)	T631I	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Focad	A	G	4: 88,321,583 (GRCm39)	M1559V	unknown	Het
Fras1	A	T	5: 96,900,873 (GRCm39)	I3031L	possibly damaging	Het
Gnas	T	C	2: 174,139,826 (GRCm39)	S58P	unknown	Het
Hdac9	G	A	12: 34,440,327 (GRCm39)	Q351*	probably null	Het
Ibsp	A	T	5: 104,457,167 (GRCm39)	N92I	probably damaging	Het
Kank1	C	A	19: 25,387,866 (GRCm39)	T513N	probably damaging	Het
Kcnh1	A	G	1: 192,101,123 (GRCm39)	T599A	probably benign	Het
Kdm5a	T	A	6: 120,392,253 (GRCm39)	L992M	probably damaging	Het
Lipc	T	C	9: 70,723,889 (GRCm39)	Y245C	probably damaging	Het
Mdfic2	T	C	6: 98,215,164 (GRCm39)	H153R	probably benign	Het
Morc3	C	A	16: 93,667,771 (GRCm39)	Y716*	probably null	Het
Mroh2b	A	T	15: 4,963,952 (GRCm39)	D848V	probably damaging	Het
Or13c7e-ps1	A	C	4: 43,781,682 (GRCm39)	I216S	possibly damaging	Het
Or2d2b	T	A	7: 106,705,336 (GRCm39)	H244L	probably damaging	Het
Or2y1b	A	G	11: 49,208,459 (GRCm39)	I29V	probably benign	Het
Or5h27	A	G	16: 59,006,090 (GRCm39)	V252A	unknown	Het
Or6ae1	T	A	7: 139,741,942 (GRCm39)	Q307L	probably benign	Het
Patl1	A	G	19: 11,898,815 (GRCm39)	E170G	probably damaging	Het
Rad17	A	G	13: 100,780,074 (GRCm39)	V112A	probably damaging	Het
Rigi	A	G	4: 40,229,545 (GRCm39)	S125P	probably benign	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slc12a5	T	C	2: 164,832,178 (GRCm39)	V699A	possibly damaging	Het
Slc13a4	A	G	6: 35,278,742 (GRCm39)	V49A	probably damaging	Het
Slc22a6	A	G	19: 8,598,596 (GRCm39)	T218A	probably benign	Het
Slc30a9	A	G	5: 67,505,278 (GRCm39)	D422G	probably damaging	Het
Slc37a3	T	C	6: 39,324,363 (GRCm39)	Y295C	possibly damaging	Het
Slc39a8	T	C	3: 135,563,923 (GRCm39)	V256A	probably benign	Het
Slc45a2	G	A	15: 11,026,005 (GRCm39)	E452K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Slc7a12	G	A	3: 14,546,035 (GRCm39)	C60Y	probably damaging	Het
St8sia3	T	A	18: 64,398,640 (GRCm39)	L33Q	probably damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Trim37	T	A	11: 87,077,257 (GRCm39)	V529E	probably benign	Het
Trpv3	A	T	11: 73,178,225 (GRCm39)	T431S	probably benign	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,544,679 (GRCm39)	V32808M	probably damaging	Het
Vmn2r27	T	C	6: 124,168,856 (GRCm39)	Y758C	probably damaging	Het
Vwa5b2	C	T	16: 20,423,046 (GRCm39)	P1015S	probably benign	Het
Whamm	A	G	7: 81,236,035 (GRCm39)	R413G	probably damaging	Het
Zbtb41	C	T	1: 139,350,781 (GRCm39)		probably benign	Het
Zfp119b	A	G	17: 56,246,536 (GRCm39)	S217P	possibly damaging	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
R5367:Cpq	UTSW	15	33,213,250 (GRCm39)	missense	possibly damaging	0.91
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
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'- GCGTTGTTTCCTTCTAAGGC -3'
(R):5'- ACTCACCTGTAGATGGAAAAGG -3'

Sequencing Primer
(F):5'- AGGCAGATGTCTAACTTGCAGTC -3'
(R):5'- CTACTGATTGGATGAGGGATGCCAC -3'

Posted On

2022-05-16