Mutagenetix > Incidental Mutation

Incidental Mutation 'R7602:Hpca'

588052

Institutional Source

Beutler Lab

Gene Symbol

Hpca

Ensembl Gene

ENSMUSG00000028785

Gene Name

hippocalcin

Synonyms

MMRRC Submission

045674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R7602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129005363-129015829 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 129014019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030572] [ENSMUST00000095807] [ENSMUST00000116442] [ENSMUST00000116444] [ENSMUST00000125931] [ENSMUST00000135763] [ENSMUST00000139450] [ENSMUST00000149763] [ENSMUST00000164649]

AlphaFold

P84075

Predicted Effect

probably benign
Transcript: ENSMUST00000030572

SMART Domains

Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095807

SMART Domains

Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116442

SMART Domains

Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116444

SMART Domains

Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125931

SMART Domains

Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135763

Predicted Effect

probably benign
Transcript: ENSMUST00000139450

SMART Domains

Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149763

SMART Domains

Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164649

SMART Domains

Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785

Domain	Start	End	E-Value	Type
EFh	64	92	2.37e-3	SMART
EFh	100	128	3.1e-7	SMART
EFh	148	176	1.29e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit an age-dependent increase in neurodegeneration in the hippocampus and the cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	T	1: 151,856,266 (GRCm39)	Y34N	probably damaging	Het
A2m	T	C	6: 121,618,966 (GRCm39)	V237A	probably damaging	Het
A2m	A	T	6: 121,647,895 (GRCm39)	D1129V	possibly damaging	Het
Aadacl2fm3	T	C	3: 59,784,697 (GRCm39)	I390T	probably benign	Het
Abca7	A	G	10: 79,833,846 (GRCm39)		probably null	Het
Adam34l	C	T	8: 44,079,703 (GRCm39)	G174R	probably damaging	Het
Ap3m2	T	C	8: 23,282,770 (GRCm39)	N256S	probably benign	Het
Atr	C	T	9: 95,789,436 (GRCm39)	H1531Y	possibly damaging	Het
Carmil3	C	T	14: 55,738,965 (GRCm39)	A873V	probably null	Het
Casp8	A	C	1: 58,872,898 (GRCm39)	K258T	probably benign	Het
Cast	A	G	13: 74,885,084 (GRCm39)	S222P	probably benign	Het
Cpsf7	C	T	19: 10,512,737 (GRCm39)	P274S	probably damaging	Het
Ddx24	A	T	12: 103,382,519 (GRCm39)	L688*	probably null	Het
Ddx59	A	G	1: 136,361,559 (GRCm39)	I475V	probably benign	Het
Dhx29	T	A	13: 113,081,093 (GRCm39)	S376T	possibly damaging	Het
Dhx57	G	T	17: 80,582,290 (GRCm39)	N438K	probably benign	Het
Dlk1	T	A	12: 109,421,551 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,091,004 (GRCm39)	M114V	probably benign	Het
Epha6	T	C	16: 59,595,931 (GRCm39)	D920G	probably damaging	Het
Exo5	A	T	4: 120,778,818 (GRCm39)	V349E	probably benign	Het
Fam234b	T	C	6: 135,202,241 (GRCm39)	V321A	possibly damaging	Het
Gbp3	A	G	3: 142,274,822 (GRCm39)	E383G	probably benign	Het
Gga2	T	C	7: 121,596,553 (GRCm39)	N408S	probably benign	Het
Gse1	T	C	8: 121,296,043 (GRCm39)	V532A	unknown	Het
Hnrnpul2	T	C	19: 8,808,673 (GRCm39)	Y712H	probably damaging	Het
Ifitm3	A	G	7: 140,590,372 (GRCm39)	F63L	probably damaging	Het
Inava	G	T	1: 136,153,135 (GRCm39)	C252*	probably null	Het
Kank1	A	T	19: 25,399,525 (GRCm39)	T940S	probably benign	Het
Klhl9	C	A	4: 88,640,646 (GRCm39)		probably benign	Het
Krt36	T	C	11: 99,993,786 (GRCm39)	M351V	probably benign	Het
Mthfd2	T	C	6: 83,288,830 (GRCm39)	N125D	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Ncoa2	A	G	1: 13,247,350 (GRCm39)	S358P	possibly damaging	Het
Nmnat1	T	C	4: 149,557,808 (GRCm39)	H78R	probably benign	Het
Or10s1	T	G	9: 39,986,455 (GRCm39)	L288R	probably damaging	Het
Or5k1	T	C	16: 58,617,343 (GRCm39)	I289V	possibly damaging	Het
Or5m13b	A	T	2: 85,754,146 (GRCm39)	Y178F	probably damaging	Het
Or9r3	A	G	10: 129,948,179 (GRCm39)	M160T	probably benign	Het
Pabpc4	A	T	4: 123,186,685 (GRCm39)	D302V	possibly damaging	Het
Pgap1	A	T	1: 54,582,345 (GRCm39)	S167R	probably damaging	Het
Phf12	T	C	11: 77,914,109 (GRCm39)	L517P	probably benign	Het
Rcan2	A	G	17: 44,328,689 (GRCm39)	D86G	probably benign	Het
Ryk	T	C	9: 102,775,715 (GRCm39)	Y442H	probably damaging	Het
Scfd2	G	T	5: 74,623,271 (GRCm39)	Q421K	probably benign	Het
Sirpa	G	T	2: 129,451,072 (GRCm39)	V111F	probably damaging	Het
Skint4	A	T	4: 111,975,468 (GRCm39)	T143S	possibly damaging	Het
Slc12a8	C	A	16: 33,445,494 (GRCm39)	H463N	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Sptlc2	A	G	12: 87,388,463 (GRCm39)	Y340H	probably damaging	Het
Ssc5d	T	A	7: 4,945,745 (GRCm39)	W926R	possibly damaging	Het
Tgfa	A	G	6: 86,246,944 (GRCm39)	E82G	probably damaging	Het
Thrsp	A	G	7: 97,066,514 (GRCm39)	I66T	probably damaging	Het
Ttn	T	C	2: 76,681,988 (GRCm39)	E1003G	unknown	Het
Tube1	A	T	10: 39,018,262 (GRCm39)	H113L	probably benign	Het
Uri1	A	G	7: 37,681,053 (GRCm39)	V117A	probably benign	Het
Ush2a	G	A	1: 188,380,606 (GRCm39)	C2305Y	probably damaging	Het
Zbtb7a	T	G	10: 80,980,010 (GRCm39)	V68G	probably damaging	Het
Zfr	T	A	15: 12,159,763 (GRCm39)	D686E	possibly damaging	Het
Zscan4f	G	A	7: 11,135,308 (GRCm39)	S238N	possibly damaging	Het

Other mutations in Hpca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Hpca	APN	4	129,012,368 (GRCm39)	missense	probably damaging	1.00
IGL02893:Hpca	APN	4	129,012,215 (GRCm39)	missense	probably damaging	1.00
IGL03083:Hpca	APN	4	129,012,319 (GRCm39)	missense	probably damaging	1.00
IGL03165:Hpca	APN	4	129,012,383 (GRCm39)	missense	probably damaging	1.00
R1840:Hpca	UTSW	4	129,012,393 (GRCm39)	missense	probably damaging	1.00
R2147:Hpca	UTSW	4	129,012,278 (GRCm39)	missense	possibly damaging	0.86
R2372:Hpca	UTSW	4	129,012,237 (GRCm39)	nonsense	probably null
R6265:Hpca	UTSW	4	129,012,445 (GRCm39)	nonsense	probably null
R7237:Hpca	UTSW	4	129,012,407 (GRCm39)	missense	probably damaging	1.00
R8956:Hpca	UTSW	4	129,012,287 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGGCACCCTTGTCATTTG -3'
(R):5'- CCACATCATGGGTGAGCATACG -3'

Sequencing Primer
(F):5'- TATCCCCGAGGTGCTGTCAG -3'
(R):5'- GTGAGCATACGCATTCAACATG -3'

Posted On

2019-10-24