Mutagenetix > Incidental Mutation

Incidental Mutation 'R8952:Proca1'

681716

Institutional Source

Beutler Lab

Gene Symbol

Proca1

Ensembl Gene

ENSMUSG00000044122

Gene Name

protein interacting with cyclin A1

Synonyms

4933404M19Rik

MMRRC Submission

068714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78084218-78096589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78095773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 135 (H135P)

Ref Sequence

ENSEMBL: ENSMUSP00000103953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002121] [ENSMUST00000060539] [ENSMUST00000078099] [ENSMUST00000108317]

AlphaFold

B0QZF7

Predicted Effect

probably benign
Transcript: ENSMUST00000002121

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:SPT6_acidic	37	127	8.8e-19	PFAM
low complexity region	146	164	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
low complexity region	220	250	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
Pfam:HTH_44	305	432	1.3e-28	PFAM
low complexity region	494	509	N/A	INTRINSIC
YqgFc	779	894	4.27e-21	SMART
Pfam:HHH_7	935	1038	3.1e-55	PFAM
Pfam:HHH_3	966	1036	5.2e-10	PFAM
Pfam:DLD	1051	1159	6.8e-39	PFAM
S1	1221	1282	2.8e-3	SMART
SH2	1332	1421	4.12e-11	SMART
low complexity region	1441	1454	N/A	INTRINSIC
Blast:SH2	1455	1517	9e-19	BLAST
low complexity region	1586	1599	N/A	INTRINSIC
low complexity region	1639	1664	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060539

SMART Domains

Protein: ENSMUSP00000050319
Gene: ENSMUSG00000044122

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078099
AA Change: H48P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122
AA Change: H48P

Domain	Start	End	E-Value	Type
coiled coil region	92	121	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108314

Predicted Effect

probably benign
Transcript: ENSMUST00000108317
AA Change: H135P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122
AA Change: H135P

Domain	Start	End	E-Value	Type
Blast:PA2c	33	99	2e-12	BLAST
SCOP:d1poc__	55	102	5e-4	SMART
coiled coil region	179	208	N/A	INTRINSIC
low complexity region	235	248	N/A	INTRINSIC
low complexity region	285	299	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124772

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,025 (GRCm39)	S134T	probably damaging	Het
Adamts12	A	G	15: 11,286,065 (GRCm39)	N758S	probably damaging	Het
Asb3	C	A	11: 31,008,959 (GRCm39)	Q287K	probably damaging	Het
Bach1	T	A	16: 87,512,353 (GRCm39)	N25K	probably damaging	Het
Carmil2	T	A	8: 106,417,398 (GRCm39)	V552E	possibly damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dock3	A	G	9: 106,850,958 (GRCm39)	F848S	probably benign	Het
Dytn	G	A	1: 63,698,111 (GRCm39)	R299C		Het
Fbxl18	C	T	5: 142,871,502 (GRCm39)	A578T	probably damaging	Het
Galr1	C	T	18: 82,411,909 (GRCm39)	C319Y	probably damaging	Het
Gstm7	T	C	3: 107,838,757 (GRCm39)		probably benign	Het
Hspa1l	G	T	17: 35,196,946 (GRCm39)	M328I	probably benign	Het
Itgad	A	T	7: 127,789,324 (GRCm39)	Y596F	probably damaging	Het
Krt19	T	A	11: 100,031,768 (GRCm39)	N395Y	possibly damaging	Het
Lrit1	G	A	14: 36,783,664 (GRCm39)	A331T	probably damaging	Het
Mmp1b	C	T	9: 7,386,346 (GRCm39)	V192I	possibly damaging	Het
Mrc1	C	T	2: 14,253,735 (GRCm39)	A252V	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,299,459 (GRCm39)	D1265G	probably benign	Het
Ndc1	T	C	4: 107,247,623 (GRCm39)	I477T	probably benign	Het
Neo1	A	G	9: 58,897,545 (GRCm39)	F137S	probably benign	Het
Nos2	A	G	11: 78,836,089 (GRCm39)	N384S	probably benign	Het
Nup133	T	C	8: 124,634,500 (GRCm39)	I1031V	probably damaging	Het
Nup98	A	G	7: 101,835,859 (GRCm39)	Y195H	probably damaging	Het
Obscn	C	T	11: 59,026,960 (GRCm39)	C81Y	probably damaging	Het
Or1j10	A	G	2: 36,267,402 (GRCm39)	I205V	probably benign	Het
Pfn2	T	C	3: 57,752,756 (GRCm39)	D55G	probably damaging	Het
Pif1	A	G	9: 65,499,499 (GRCm39)	K485R	probably damaging	Het
Polr1e	A	G	4: 45,018,727 (GRCm39)	E19G	probably damaging	Het
Prkdc	T	A	16: 15,491,624 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,310,900 (GRCm39)	K383R	probably damaging	Het
Ptcd1	A	G	5: 145,091,944 (GRCm39)	L385P	probably damaging	Het
Ptpra	T	G	2: 130,386,969 (GRCm39)	I620S	probably damaging	Het
Rad54l2	T	A	9: 106,566,050 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,432,861 (GRCm39)	N262K	probably damaging	Het
Stat1	G	T	1: 52,187,042 (GRCm39)	V450F	probably benign	Het
Thada	G	A	17: 84,736,524 (GRCm39)	T919I	probably benign	Het
Thsd7a	A	T	6: 12,468,992 (GRCm39)	L529I	probably damaging	Het
Ttn	A	G	2: 76,748,863 (GRCm39)	V4062A	probably benign	Het
Usp9y	A	C	Y: 1,332,662 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,285,531 (GRCm39)	Y117C	possibly damaging	Het
Wdr33	A	T	18: 31,960,393 (GRCm39)	H19L	possibly damaging	Het
Wdr76	C	A	2: 121,372,899 (GRCm39)	H575Q	probably benign	Het
Xab2	A	G	8: 3,663,875 (GRCm39)	V348A	probably damaging	Het
Zfhx2	A	T	14: 55,310,207 (GRCm39)	Y780N	possibly damaging	Het
Zmynd12	T	C	4: 119,302,081 (GRCm39)		probably null	Het

Other mutations in Proca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01806:Proca1	APN	11	78,095,737 (GRCm39)	missense	probably damaging	0.99
IGL01905:Proca1	APN	11	78,095,716 (GRCm39)	missense	probably damaging	0.98
R0396:Proca1	UTSW	11	78,085,731 (GRCm39)	missense	probably damaging	0.96
R0398:Proca1	UTSW	11	78,096,094 (GRCm39)	missense	probably benign	0.00
R0734:Proca1	UTSW	11	78,092,628 (GRCm39)	splice site	probably benign
R0980:Proca1	UTSW	11	78,095,773 (GRCm39)	missense	probably benign	0.00
R1899:Proca1	UTSW	11	78,095,847 (GRCm39)	missense	probably damaging	0.99
R1900:Proca1	UTSW	11	78,095,847 (GRCm39)	missense	probably damaging	0.99
R2183:Proca1	UTSW	11	78,094,975 (GRCm39)	missense	possibly damaging	0.92
R2867:Proca1	UTSW	11	78,095,806 (GRCm39)	missense	probably damaging	0.97
R2867:Proca1	UTSW	11	78,095,806 (GRCm39)	missense	probably damaging	0.97
R4237:Proca1	UTSW	11	78,095,752 (GRCm39)	missense	probably benign	0.22
R4687:Proca1	UTSW	11	78,095,724 (GRCm39)	missense	probably damaging	0.97
R5299:Proca1	UTSW	11	78,096,078 (GRCm39)	missense	probably damaging	0.99
R5318:Proca1	UTSW	11	78,092,683 (GRCm39)	missense	possibly damaging	0.92
R5379:Proca1	UTSW	11	78,096,092 (GRCm39)	missense	probably damaging	0.99
R5564:Proca1	UTSW	11	78,092,699 (GRCm39)	missense	possibly damaging	0.81
R6592:Proca1	UTSW	11	78,095,779 (GRCm39)	missense	probably benign	0.00
R6796:Proca1	UTSW	11	78,085,754 (GRCm39)	missense	probably benign
R6894:Proca1	UTSW	11	78,085,613 (GRCm39)	unclassified	probably benign
R7423:Proca1	UTSW	11	78,085,643 (GRCm39)	unclassified	probably benign
R8110:Proca1	UTSW	11	78,095,737 (GRCm39)	missense	probably damaging	0.99
R8974:Proca1	UTSW	11	78,096,144 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGACATAACTCCAAGGTACCCTG -3'
(R):5'- CCGACTTCACTGGGGTTTTC -3'

Sequencing Primer
(F):5'- CAAGGTACCCTGCTTCAGC -3'
(R):5'- CACTGGGGTTTTCTTCTTAGTTAAC -3'

Posted On

2021-08-31