Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Cpb2'

471309

Institutional Source

Beutler Lab

Gene Symbol

Cpb2

Ensembl Gene

ENSMUSG00000021999

Gene Name

carboxypeptidase B2

Synonyms

CPU, CPR, carboxypeptidase U, 1110032P04Rik, TAFI, 4930405E17Rik, thrombin-activatable fibrinolysis inhibitor, carboxypeptidase R

MMRRC Submission

044145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75479727-75520995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75520827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 414 (I414T)

Ref Sequence

ENSEMBL: ENSMUSP00000022576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022576] [ENSMUST00000022577] [ENSMUST00000227049]

AlphaFold

Q9JHH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022576
AA Change: I414T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: I414T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Propep_M14	28	104	2.3e-17	PFAM
Zn_pept	122	406	2.1e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022577

SMART Domains

Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000

Domain	Start	End	E-Value	Type
ZnF_C3H1	36	63	4.54e-4	SMART
low complexity region	136	145	N/A	INTRINSIC
coiled coil region	162	197	N/A	INTRINSIC
low complexity region	204	233	N/A	INTRINSIC
low complexity region	261	269	N/A	INTRINSIC
low complexity region	278	287	N/A	INTRINSIC
low complexity region	321	357	N/A	INTRINSIC
low complexity region	411	478	N/A	INTRINSIC
low complexity region	482	493	N/A	INTRINSIC
low complexity region	496	575	N/A	INTRINSIC
low complexity region	684	701	N/A	INTRINSIC
coiled coil region	706	865	N/A	INTRINSIC
low complexity region	907	918	N/A	INTRINSIC
internal_repeat_1	921	948	1.8e-6	PROSPERO
low complexity region	964	985	N/A	INTRINSIC
low complexity region	1032	1052	N/A	INTRINSIC
low complexity region	1071	1087	N/A	INTRINSIC
low complexity region	1160	1218	N/A	INTRINSIC
low complexity region	1253	1265	N/A	INTRINSIC
internal_repeat_1	1273	1301	1.8e-6	PROSPERO
low complexity region	1325	1349	N/A	INTRINSIC
low complexity region	1366	1391	N/A	INTRINSIC
low complexity region	1400	1425	N/A	INTRINSIC
low complexity region	1431	1442	N/A	INTRINSIC
low complexity region	1690	1697	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226417

Predicted Effect

probably benign
Transcript: ENSMUST00000227049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227817

Meta Mutation Damage Score

0.5530

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

MGI Phenotype

FUNCTION: This gene encodes carboxypeptidase B, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme, and secreted into plasma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice exhibit altered plasma clot lysis and may show reduced bleomycin-induced lung fibrosis, impaired healing of cutaneous wounds and colonic anastomoses, altered glomerular structure, or complement-mediated lethal inflammation after LPS sensitization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Epyc	A	T	10: 97,485,704 (GRCm39)	H48L	probably benign	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Meioc	A	T	11: 102,565,979 (GRCm39)	T476S	probably benign	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Or5b24	T	C	19: 12,912,411 (GRCm39)	F103S	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,102,092 (GRCm39)	M722V	possibly damaging	Het
Rad18	T	C	6: 112,673,603 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spag6l	C	A	16: 16,580,885 (GRCm39)		probably null	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	probably benign	Het

Other mutations in Cpb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Cpb2	APN	14	75,512,533 (GRCm39)	missense	possibly damaging	0.64
IGL00925:Cpb2	APN	14	75,498,190 (GRCm39)	missense	possibly damaging	0.56
IGL01069:Cpb2	APN	14	75,508,215 (GRCm39)	missense	probably damaging	1.00
IGL01521:Cpb2	APN	14	75,495,071 (GRCm39)	missense	probably damaging	1.00
IGL02331:Cpb2	APN	14	75,520,844 (GRCm39)	missense	possibly damaging	0.93
IGL02947:Cpb2	APN	14	75,520,758 (GRCm39)	missense	probably damaging	1.00
IGL02961:Cpb2	APN	14	75,502,823 (GRCm39)	missense	probably benign
PIT4677001:Cpb2	UTSW	14	75,493,463 (GRCm39)	missense	probably benign
R0271:Cpb2	UTSW	14	75,495,149 (GRCm39)	splice site	probably null
R0277:Cpb2	UTSW	14	75,502,898 (GRCm39)	missense	probably damaging	1.00
R0372:Cpb2	UTSW	14	75,479,817 (GRCm39)	missense	probably benign	0.01
R1893:Cpb2	UTSW	14	75,493,403 (GRCm39)	missense	probably benign	0.44
R1926:Cpb2	UTSW	14	75,479,837 (GRCm39)	missense	probably benign	0.07
R2372:Cpb2	UTSW	14	75,505,490 (GRCm39)	missense	probably damaging	0.97
R2923:Cpb2	UTSW	14	75,493,473 (GRCm39)	critical splice donor site	probably null
R3714:Cpb2	UTSW	14	75,520,657 (GRCm39)	splice site	probably null
R5987:Cpb2	UTSW	14	75,498,128 (GRCm39)	missense	probably damaging	1.00
R6354:Cpb2	UTSW	14	75,495,145 (GRCm39)	critical splice donor site	probably null
R6495:Cpb2	UTSW	14	75,512,519 (GRCm39)	missense	probably damaging	1.00
R6984:Cpb2	UTSW	14	75,502,898 (GRCm39)	missense	possibly damaging	0.78
R7211:Cpb2	UTSW	14	75,512,430 (GRCm39)	missense	probably damaging	1.00
R7380:Cpb2	UTSW	14	75,493,449 (GRCm39)	missense	possibly damaging	0.77
R7444:Cpb2	UTSW	14	75,520,782 (GRCm39)	missense	probably damaging	0.99
R7625:Cpb2	UTSW	14	75,509,989 (GRCm39)	missense	possibly damaging	0.89
R7784:Cpb2	UTSW	14	75,512,480 (GRCm39)	missense	probably damaging	1.00
R8436:Cpb2	UTSW	14	75,510,015 (GRCm39)	missense	probably damaging	1.00
R8947:Cpb2	UTSW	14	75,515,627 (GRCm39)	missense	probably damaging	1.00
R9003:Cpb2	UTSW	14	75,479,868 (GRCm39)	splice site	probably benign
R9272:Cpb2	UTSW	14	75,520,803 (GRCm39)	missense	probably damaging	1.00
R9391:Cpb2	UTSW	14	75,508,136 (GRCm39)	missense	probably damaging	0.98
R9409:Cpb2	UTSW	14	75,505,522 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAGAAGGAAGCTATTTTCGTTTCTAC -3'
(R):5'- GGGGCCATTTTCACTCTTAAGC -3'

Sequencing Primer
(F):5'- GAGGTTCTGACGATTGGA -3'
(R):5'- CACTCTTAAGCTCAAAGTAGTGTGC -3'

Posted On

2017-03-31