Mutagenetix > Incidental Mutation

Incidental Mutation 'R9138:Caln1'

694137

Institutional Source

Beutler Lab

Gene Symbol

Caln1

Ensembl Gene

ENSMUSG00000060371

Gene Name

calneuron 1

Synonyms

Cabp8, 9630012C17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130398296-130876253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130698449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 157 (L157P)

Ref Sequence

ENSEMBL: ENSMUSP00000083193 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086029] [ENSMUST00000111287] [ENSMUST00000111288]

AlphaFold

Q9JJG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000086029
AA Change: L157P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371
AA Change: L157P

Domain	Start	End	E-Value	Type
EFh	82	110	2.98e-9	SMART
EFh	118	146	2.06e-3	SMART
low complexity region	195	204	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111287
AA Change: L115P

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106918
Gene: ENSMUSG00000060371
AA Change: L115P

Domain	Start	End	E-Value	Type
EFh	40	68	2.98e-9	SMART
EFh	76	104	2.06e-3	SMART
low complexity region	153	162	N/A	INTRINSIC
transmembrane domain	192	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111288
AA Change: L115P

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106919
Gene: ENSMUSG00000060371
AA Change: L115P

Domain	Start	End	E-Value	Type
EFh	40	68	2.98e-9	SMART
EFh	76	104	2.06e-3	SMART
low complexity region	153	162	N/A	INTRINSIC
transmembrane domain	192	214	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adgre5	A	T	8: 84,452,563 (GRCm39)	N502K	probably benign	Het
Ago4	T	A	4: 126,414,073 (GRCm39)	K73*	probably null	Het
Angpt2	T	C	8: 18,764,162 (GRCm39)	I127V	probably benign	Het
Ankhd1	TGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGC	18: 36,693,961 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,722,626 (GRCm39)	I368N	probably damaging	Het
Arhgap5	A	G	12: 52,609,146 (GRCm39)	I1374V	probably benign	Het
B3galt9	T	C	2: 34,728,920 (GRCm39)	Y240H	probably damaging	Het
Bltp3b	T	A	10: 89,615,738 (GRCm39)	V127D	probably damaging	Het
Cdh9	G	T	15: 16,823,273 (GRCm39)	G85V	probably damaging	Het
Chrna4	A	G	2: 180,670,775 (GRCm39)	V327A	probably damaging	Het
Col11a2	T	C	17: 34,279,847 (GRCm39)	S1156P		Het
Cps1	G	A	1: 67,254,569 (GRCm39)	V1253M	probably damaging	Het
Crb1	T	C	1: 139,162,468 (GRCm39)	E1291G		Het
Dab1	A	T	4: 104,588,929 (GRCm39)	K518*	probably null	Het
Ddias	A	T	7: 92,507,608 (GRCm39)	I769N	possibly damaging	Het
Dlg5	G	T	14: 24,295,376 (GRCm39)	A48E	probably damaging	Het
Dok1	G	T	6: 83,009,806 (GRCm39)	A101E	probably damaging	Het
Dpf2	T	C	19: 5,948,593 (GRCm39)	N389S	probably benign	Het
Evi5l	T	A	8: 4,233,582 (GRCm39)	S22T	probably benign	Het
Garin5b	A	G	7: 4,773,406 (GRCm39)	F137S		Het
Gm5431	T	A	11: 48,780,498 (GRCm39)	R141S	probably benign	Het
Gmds	A	T	13: 32,311,035 (GRCm39)	Y197*	probably null	Het
Gprc5a	T	A	6: 135,056,164 (GRCm39)	S204T	probably damaging	Het
H2bc1	T	C	13: 24,118,112 (GRCm39)	T10A	probably benign	Het
Hoxd12	T	A	2: 74,505,902 (GRCm39)	S158T	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kif16b	C	A	2: 142,542,476 (GRCm39)	E273D		Het
Lct	T	C	1: 128,227,894 (GRCm39)	I1200V	probably benign	Het
Lrrfip1	T	A	1: 91,038,080 (GRCm39)	L398I	probably damaging	Het
Mcm4	T	C	16: 15,447,200 (GRCm39)	E588G	probably damaging	Het
Mdga2	C	T	12: 66,615,663 (GRCm39)	G648D	possibly damaging	Het
Mfrp	A	G	9: 44,017,673 (GRCm39)	Q555R	possibly damaging	Het
Mtf1	C	T	4: 124,732,510 (GRCm39)	Q523*	probably null	Het
Naf1	A	G	8: 67,317,198 (GRCm39)	D230G	possibly damaging	Het
Nbeal1	G	T	1: 60,286,904 (GRCm39)	E909*	probably null	Het
Nxt1	C	A	2: 148,517,572 (GRCm39)	N104K	probably benign	Het
Ocstamp	T	A	2: 165,237,864 (GRCm39)	T467S	probably benign	Het
Or1j19	A	G	2: 36,676,702 (GRCm39)	H55R	probably benign	Het
Or4n4b	T	C	14: 50,536,494 (GRCm39)	I91V	probably benign	Het
Or5b123	T	A	19: 13,596,658 (GRCm39)	M44K	probably damaging	Het
Pcdhgc5	A	C	18: 37,953,892 (GRCm39)	T389P	probably benign	Het
Peak1	A	T	9: 56,164,925 (GRCm39)	V1001E	probably benign	Het
Phf11d	C	A	14: 59,602,833 (GRCm39)	C9F	probably benign	Het
Pkd1l2	T	A	8: 117,781,748 (GRCm39)	T766S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,595 (GRCm39)	N57K		Het
Ptpro	T	A	6: 137,388,113 (GRCm39)		probably null	Het
Rasa1	T	C	13: 85,369,635 (GRCm39)	I896V	possibly damaging	Het
Rasa4	T	C	5: 136,131,455 (GRCm39)	L483P	possibly damaging	Het
Septin7	A	G	9: 25,212,761 (GRCm39)	Y309C	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slco3a1	A	T	7: 74,009,664 (GRCm39)	I217N	probably damaging	Het
Son	C	T	16: 91,452,006 (GRCm39)	T251I	possibly damaging	Het
Spata31e2	C	T	1: 26,721,253 (GRCm39)	C1309Y	possibly damaging	Het
Spen	T	C	4: 141,196,797 (GRCm39)	D3566G	probably damaging	Het
Stag1	T	C	9: 100,829,335 (GRCm39)	V1089A	probably benign	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,718,958 (GRCm39)	E354G	probably damaging	Het
Timd6	A	T	11: 46,468,126 (GRCm39)	T67S	probably damaging	Het
Tmem63c	T	C	12: 87,128,601 (GRCm39)	F542S	probably damaging	Het
Trav12-2	T	C	14: 53,854,178 (GRCm39)	S51P	probably benign	Het
Upf2	T	A	2: 6,028,132 (GRCm39)	D739E	unknown	Het
Vmn1r193	A	T	13: 22,403,844 (GRCm39)	H49Q	probably damaging	Het
Vmn2r11	T	C	5: 109,201,904 (GRCm39)	D200G	probably damaging	Het
Vmn2r114	C	A	17: 23,510,578 (GRCm39)	C634F	probably damaging	Het
Zfp444	A	G	7: 6,192,690 (GRCm39)	H236R	probably damaging	Het
Zfp712	A	G	13: 67,189,318 (GRCm39)	L403P	probably damaging	Het
Zmpste24	T	G	4: 120,923,018 (GRCm39)	Y399S	probably damaging	Het

Other mutations in Caln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Caln1	APN	5	130,698,392 (GRCm39)	missense	probably damaging	1.00
IGL03152:Caln1	APN	5	130,646,693 (GRCm39)	missense	probably damaging	0.97
IGL03409:Caln1	APN	5	130,646,719 (GRCm39)	missense	probably damaging	1.00
ANU22:Caln1	UTSW	5	130,698,392 (GRCm39)	missense	probably damaging	1.00
R0346:Caln1	UTSW	5	130,851,762 (GRCm39)	missense	possibly damaging	0.83
R2180:Caln1	UTSW	5	130,868,249 (GRCm39)	makesense	probably null
R2352:Caln1	UTSW	5	130,534,993 (GRCm39)	nonsense	probably null
R5489:Caln1	UTSW	5	130,443,673 (GRCm39)	missense	possibly damaging	0.66
R7114:Caln1	UTSW	5	130,868,124 (GRCm39)	missense	possibly damaging	0.93
R7159:Caln1	UTSW	5	130,851,838 (GRCm39)	missense	probably benign	0.20
R7355:Caln1	UTSW	5	130,443,732 (GRCm39)	missense	probably benign
R7611:Caln1	UTSW	5	130,534,918 (GRCm39)	missense	probably damaging	0.99
R8119:Caln1	UTSW	5	130,851,825 (GRCm39)	missense	probably damaging	0.96
R9088:Caln1	UTSW	5	130,443,617 (GRCm39)	start gained	probably benign
Z1177:Caln1	UTSW	5	130,868,155 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTATTTAGGTCATGCCAAGGAG -3'
(R):5'- GGAGACAGCTCAATTCTCCAG -3'

Sequencing Primer
(F):5'- TATTTAGGTCATGCCAAGGAGAAAAG -3'
(R):5'- TATAGCATATCAACTGCGATACCC -3'

Posted On

2022-01-20