Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03165:Hpca'

411579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hpca

Ensembl Gene

ENSMUSG00000028785

Gene Name

hippocalcin

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

129111570-129122036 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129118590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 51 (I51N)

Ref Sequence

ENSEMBL: ENSMUSP00000115031 (fasta)

Gene Model

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

AlphaFold

P84075

Predicted Effect

probably damaging
Transcript: ENSMUST00000030572
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785
AA Change: I51N

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 damaging
Transcript: ENSMUST00000095807
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785
AA Change: I51N

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 damaging
Transcript: ENSMUST00000116442
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785
AA Change: I51N

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 damaging
Transcript: ENSMUST00000116444
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785
AA Change: I51N

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 damaging
Transcript: ENSMUST00000125931
AA Change: I51N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785
AA Change: I51N

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 damaging
Transcript: ENSMUST00000139450
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785
AA Change: I51N

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 damaging
Transcript: ENSMUST00000149763
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785
AA Change: I51N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164649
AA Change: I51N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785
AA Change: I51N

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

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394 (GRCm38)	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389 (GRCm38)	Y519F	probably benign	Het
C4b	A	G	17: 34,739,955 (GRCm38)	F500S	probably benign	Het
Cacng2	A	T	15: 77,995,663 (GRCm38)	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519 (GRCm38)	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232 (GRCm38)		probably benign	Het
Ctnna3	A	G	10: 64,945,941 (GRCm38)	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776 (GRCm38)	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533 (GRCm38)	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628 (GRCm38)	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872 (GRCm38)		probably null	Het
Flg2	C	T	3: 93,214,611 (GRCm38)	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378 (GRCm38)	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529 (GRCm38)	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965 (GRCm38)	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993 (GRCm38)	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434 (GRCm38)	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912 (GRCm38)	E3513G	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080 (GRCm38)	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305 (GRCm38)		probably benign	Het
Kdm7a	C	A	6: 39,170,914 (GRCm38)		probably benign	Het
Olfr1040	A	C	2: 86,146,068 (GRCm38)	L222R	possibly damaging	Het
Olfr382	A	T	11: 73,516,884 (GRCm38)	L105*	probably null	Het
Olfr619	T	C	7: 103,604,011 (GRCm38)	I119T	probably damaging	Het
Pa2g4	A	T	10: 128,559,060 (GRCm38)		probably null	Het
Pdlim3	T	A	8: 45,918,998 (GRCm38)	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745 (GRCm38)	T436I	probably benign	Het
Polk	T	A	13: 96,516,688 (GRCm38)	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487 (GRCm38)	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,247,281 (GRCm38)		probably benign	Het
Rbm12b1	A	G	4: 12,145,845 (GRCm38)	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040 (GRCm38)	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168 (GRCm38)	D521E	probably damaging	Het
Sntg1	A	T	1: 8,445,104 (GRCm38)	C402S	probably damaging	Het
Spg7	T	C	8: 123,080,812 (GRCm38)		probably null	Het
Stk31	G	A	6: 49,445,264 (GRCm38)	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948 (GRCm38)	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749 (GRCm38)	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304 (GRCm38)	L775S	probably damaging	Het
Utp14b	A	G	1: 78,664,520 (GRCm38)	D45G	probably damaging	Het

Other mutations in Hpca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Hpca	APN	4	129,118,575 (GRCm38)	missense	probably damaging	1.00
IGL02893:Hpca	APN	4	129,118,422 (GRCm38)	missense	probably damaging	1.00
IGL03083:Hpca	APN	4	129,118,526 (GRCm38)	missense	probably damaging	1.00
R1840:Hpca	UTSW	4	129,118,600 (GRCm38)	missense	probably damaging	1.00
R2147:Hpca	UTSW	4	129,118,485 (GRCm38)	missense	possibly damaging	0.86
R2372:Hpca	UTSW	4	129,118,444 (GRCm38)	nonsense	probably null
R6265:Hpca	UTSW	4	129,118,652 (GRCm38)	nonsense	probably null
R7237:Hpca	UTSW	4	129,118,614 (GRCm38)	missense	probably damaging	1.00
R7602:Hpca	UTSW	4	129,120,226 (GRCm38)	intron	probably benign
R8956:Hpca	UTSW	4	129,118,494 (GRCm38)	missense	probably damaging	0.99

Posted On

2016-08-02