Mutagenetix > Incidental Mutation

Incidental Mutation 'R5318:Proca1'

405939

Institutional Source

Beutler Lab

Gene Symbol

Proca1

Ensembl Gene

ENSMUSG00000044122

Gene Name

protein interacting with cyclin A1

Synonyms

4933404M19Rik

MMRRC Submission

042901-MU

Accession Numbers

Essential gene?

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

Stock #

R5318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78084218-78096589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78092683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 43 (V43E)

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

unknown
Transcript: ENSMUST00000060539
AA Change: V43E

SMART Domains

Protein: ENSMUSP00000050319
Gene: ENSMUSG00000044122
AA Change: V43E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078099

SMART Domains

Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122

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

possibly damaging
Transcript: ENSMUST00000108317
AA Change: V43E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122
AA Change: V43E

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	A	17: 35,878,883 (GRCm39)	E74K	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ankfn1	A	G	11: 89,282,754 (GRCm39)	S298P	probably damaging	Het
Arfgef2	A	C	2: 166,715,891 (GRCm39)	K1393N	probably damaging	Het
Atp4a	T	A	7: 30,414,754 (GRCm39)	V181E	probably damaging	Het
Bin3	A	G	14: 70,371,961 (GRCm39)	D134G	possibly damaging	Het
Cabs1	A	G	5: 88,128,425 (GRCm39)	T359A	possibly damaging	Het
Cblb	A	T	16: 52,006,561 (GRCm39)	K754N	possibly damaging	Het
Ccdc153	A	T	9: 44,157,062 (GRCm39)	R135*	probably null	Het
Cel	T	C	2: 28,447,720 (GRCm39)	E398G	possibly damaging	Het
Clip1	G	A	5: 123,751,147 (GRCm39)		probably benign	Het
Dnase2b	C	A	3: 146,288,210 (GRCm39)	R295L	probably benign	Het
Dnm3	G	A	1: 161,839,376 (GRCm39)	Q194*	probably null	Het
Dtx2	T	A	5: 136,040,954 (GRCm39)	S120T	possibly damaging	Het
Fat3	A	T	9: 16,287,925 (GRCm39)	S533T	probably damaging	Het
Foxred2	T	C	15: 77,836,598 (GRCm39)	I306V	probably benign	Het
Gdpd5	A	T	7: 99,102,234 (GRCm39)	T278S	probably benign	Het
Gli2	T	A	1: 118,772,200 (GRCm39)	T502S	probably damaging	Het
Gm21830	A	T	2: 67,263,158 (GRCm39)		probably null	Het
Gm5617	T	A	9: 48,407,211 (GRCm39)	I115N	possibly damaging	Het
Gpr75	G	T	11: 30,842,459 (GRCm39)	A455S	probably benign	Het
Grik3	A	G	4: 125,587,929 (GRCm39)	E683G	probably damaging	Het
Grin2b	T	C	6: 135,710,916 (GRCm39)	I877V	probably damaging	Het
Gsg1l2	G	T	11: 67,673,347 (GRCm39)	C109F	possibly damaging	Het
H2-Q4	G	A	17: 35,602,287 (GRCm39)	V341I	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kif5c	A	G	2: 49,561,840 (GRCm39)	K68R	probably benign	Het
Lct	T	A	1: 128,232,109 (GRCm39)	H580L	probably damaging	Het
Lrrtm4	A	G	6: 79,999,495 (GRCm39)	I302M	probably damaging	Het
Mef2b	A	T	8: 70,619,493 (GRCm39)	R228W	probably damaging	Het
Mtus2	T	A	5: 148,013,382 (GRCm39)	D58E	probably benign	Het
Myh15	T	G	16: 48,930,834 (GRCm39)	S603A	probably damaging	Het
Or1x2	T	C	11: 50,918,420 (GRCm39)	V197A	probably benign	Het
Or8d1	C	T	9: 38,766,744 (GRCm39)	P129S	probably damaging	Het
Or8s2	A	G	15: 98,276,523 (GRCm39)	I156T	possibly damaging	Het
P2rx4	G	A	5: 122,857,211 (GRCm39)	C149Y	probably null	Het
Pramel51	A	T	12: 88,142,998 (GRCm39)	C207S	probably benign	Het
Rftn1	G	T	17: 50,301,486 (GRCm39)	N454K	probably benign	Het
Rrp15	T	C	1: 186,453,743 (GRCm39)	T235A	probably benign	Het
Serpina6	T	C	12: 103,620,221 (GRCm39)	E176G	possibly damaging	Het
Shprh	T	G	10: 11,042,301 (GRCm39)	I761M	probably benign	Het
Smg1	A	T	7: 117,759,427 (GRCm39)		probably benign	Het
Snupn	T	C	9: 56,864,345 (GRCm39)	S15P	probably damaging	Het
Tbc1d15	A	T	10: 115,044,874 (GRCm39)	Y509*	probably null	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tdrd3	T	C	14: 87,714,899 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,029,576 (GRCm39)	V175D	probably benign	Het
Vmn1r201	T	C	13: 22,659,092 (GRCm39)	L102P	probably damaging	Het
Wdfy4	T	A	14: 32,800,300 (GRCm39)	N1788I	possibly damaging	Het
Xpc	A	C	6: 91,469,992 (GRCm39)	V744G	probably damaging	Het
Xrcc6	T	C	15: 81,921,708 (GRCm39)	F178L	probably damaging	Het
Zbed6	A	G	1: 133,585,853 (GRCm39)	S495P	possibly damaging	Het
Zfyve26	A	G	12: 79,317,624 (GRCm39)	V1196A	probably benign	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
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
R8952:Proca1	UTSW	11	78,095,773 (GRCm39)	missense	probably benign	0.00
R8974:Proca1	UTSW	11	78,096,144 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCTAGCTGGGCCCAACTT -3'
(R):5'- TCAACGAAGGGGCCAGCT -3'

Sequencing Primer
(F):5'- ACTTGGGGTTACCCTGAG -3'
(R):5'- CTCAAGTGGTCAGGACTATCAGC -3'

Posted On

2016-07-22