Mutagenetix > Incidental Mutation

Incidental Mutation 'R7304:Sctr'

567142

Institutional Source

Beutler Lab

Gene Symbol

Sctr

Ensembl Gene

ENSMUSG00000026387

Gene Name

secretin receptor

Synonyms

6530402O03Rik

MMRRC Submission

045365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119934710-119991269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119949970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 53 (E53V)

Ref Sequence

ENSEMBL: ENSMUSP00000139932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072886] [ENSMUST00000189037]

AlphaFold

Q5FWI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072886
AA Change: E53V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387
AA Change: E53V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	76	146	5.18e-21	SMART
Pfam:7tm_2	153	398	3.8e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189037
AA Change: E53V

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

SMART Domains

Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387
AA Change: E53V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	61	131	2.59e-21	SMART
Pfam:7tm_2	138	383	1.9e-89	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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 G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show polydipsia, polyuria, decreased urine osmolality, higher serum glucose levels, kidney glomerular and tubular pathology, and impaired renal water reabsorption. Homozygotes for a different null allele show impaired synaptic plasticity and social behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,247,203 (GRCm39)	S2317G	probably benign	Het
Acap2	A	C	16: 30,926,934 (GRCm39)	L502R	probably benign	Het
Amotl2	A	G	9: 102,605,549 (GRCm39)	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,743,147 (GRCm39)		probably null	Het
Armc9	C	G	1: 86,090,437 (GRCm39)	D77E	probably benign	Het
Art1	T	A	7: 101,755,531 (GRCm39)	S8T	possibly damaging	Het
Asic5	G	A	3: 81,916,872 (GRCm39)	A321T	possibly damaging	Het
Astn2	A	G	4: 66,103,612 (GRCm39)	I267T	unknown	Het
Bmp8a	T	C	4: 123,236,182 (GRCm39)	N107S	probably benign	Het
Card14	T	A	11: 119,228,573 (GRCm39)	L633Q	probably damaging	Het
Chpf	C	T	1: 75,455,698 (GRCm39)	V18M	possibly damaging	Het
Cog7	T	C	7: 121,536,362 (GRCm39)	I493V	probably benign	Het
Col3a1	A	T	1: 45,386,971 (GRCm39)	N1394I	unknown	Het
Crybg1	C	T	10: 43,873,254 (GRCm39)	D1285N	probably benign	Het
Depdc7	A	G	2: 104,553,463 (GRCm39)	V395A	possibly damaging	Het
Dido1	G	A	2: 180,329,286 (GRCm39)	L379F	probably damaging	Het
Dnajc13	G	T	9: 104,115,713 (GRCm39)	T32N	probably benign	Het
Dok2	T	A	14: 71,013,468 (GRCm39)	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,766,410 (GRCm39)	R1311H	probably damaging	Het
Gm3099	A	T	14: 15,346,488 (GRCm39)	N118I	probably damaging	Het
Gtse1	A	G	15: 85,755,748 (GRCm39)	T471A	probably benign	Het
Heg1	G	A	16: 33,581,160 (GRCm39)	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,470,156 (GRCm39)	Y248F	possibly damaging	Het
Irag1	T	C	7: 110,498,931 (GRCm39)	T367A	possibly damaging	Het
Itgb3bp	C	G	4: 99,657,758 (GRCm39)	E169Q	probably damaging	Het
Kcna2	A	G	3: 107,012,066 (GRCm39)	T216A	probably benign	Het
Kcnj6	A	T	16: 94,742,042 (GRCm39)	M10K	probably benign	Het
Krt17	T	G	11: 100,148,163 (GRCm39)	Q397P	probably benign	Het
Lrtm1	T	A	14: 28,744,075 (GRCm39)	M181K	probably damaging	Het
Map3k5	A	G	10: 19,975,301 (GRCm39)	H741R	probably damaging	Het
Mier1	T	A	4: 102,996,599 (GRCm39)	Y120*	probably null	Het
Myh14	T	A	7: 44,279,415 (GRCm39)	T922S	probably benign	Het
Nfkbie	A	T	17: 45,871,067 (GRCm39)	I240F	possibly damaging	Het
Npas3	C	A	12: 54,115,824 (GRCm39)	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,178,994 (GRCm39)	V314E	probably benign	Het
Or2z9	T	A	8: 72,854,190 (GRCm39)	Y195*	probably null	Het
Pds5a	T	C	5: 65,777,077 (GRCm39)	N28S	probably damaging	Het
Pira1	T	C	7: 3,740,493 (GRCm39)	T243A	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,878 (GRCm39)	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,294,874 (GRCm39)	Y99C	probably benign	Het
Plpp6	T	C	19: 28,941,617 (GRCm39)	S73P	probably benign	Het
Polb	T	C	8: 23,129,975 (GRCm39)	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,838,840 (GRCm39)	N13D	possibly damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprn2	T	A	12: 117,212,164 (GRCm39)	V862D	probably damaging	Het
Rassf4	T	C	6: 116,617,278 (GRCm39)	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,598 (GRCm39)	T320I	probably damaging	Het
Srcin1	T	C	11: 97,442,519 (GRCm39)	D103G	probably benign	Het
St3gal3	T	C	4: 117,814,633 (GRCm39)	Q220R		Het
Stk40	G	A	4: 126,019,483 (GRCm39)	E86K	probably benign	Het
Tas2r104	T	A	6: 131,662,005 (GRCm39)	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,738,280 (GRCm39)	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,030,890 (GRCm39)	N1075S	probably benign	Het
Trak1	A	G	9: 121,245,278 (GRCm39)	Y51C	probably benign	Het
Trav16n	T	A	14: 53,588,859 (GRCm39)	V45E	probably benign	Het
Ttc6	T	C	12: 57,622,837 (GRCm39)	S79P	probably damaging	Het
Unc79	C	T	12: 103,029,449 (GRCm39)	T484M	probably damaging	Het
Usp49	T	C	17: 47,983,796 (GRCm39)	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,216,004 (GRCm39)	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,908,011 (GRCm39)	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,490,824 (GRCm39)	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,411,671 (GRCm39)	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,203,586 (GRCm39)	L55S	probably damaging	Het
Wdr90	T	C	17: 26,070,480 (GRCm39)	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,569,480 (GRCm39)	S535P	probably damaging	Het
Zfp329	T	C	7: 12,544,826 (GRCm39)	I233V	probably damaging	Het
Zfp579	T	A	7: 4,997,582 (GRCm39)	T110S	probably benign	Het

Other mutations in Sctr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Sctr	APN	1	119,972,450 (GRCm39)	missense	probably damaging	1.00
IGL01542:Sctr	APN	1	119,972,499 (GRCm39)	splice site	probably benign
IGL02798:Sctr	APN	1	119,949,910 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sctr	APN	1	119,949,909 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sctr	APN	1	119,972,393 (GRCm39)	missense	possibly damaging	0.95
IGL03256:Sctr	APN	1	119,959,289 (GRCm39)	splice site	probably benign
PIT4677001:Sctr	UTSW	1	119,989,634 (GRCm39)	missense	probably damaging	1.00
R0018:Sctr	UTSW	1	119,971,286 (GRCm39)	splice site	probably benign
R0166:Sctr	UTSW	1	119,983,124 (GRCm39)	missense	probably damaging	0.97
R1678:Sctr	UTSW	1	119,964,169 (GRCm39)	critical splice donor site	probably null
R1728:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1728:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1729:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1729:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1729:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1730:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1730:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1739:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1739:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1739:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1762:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1762:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1762:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1783:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1785:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1785:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1785:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R2116:Sctr	UTSW	1	119,959,312 (GRCm39)	missense	probably damaging	1.00
R5522:Sctr	UTSW	1	119,964,146 (GRCm39)	missense	probably benign	0.10
R5776:Sctr	UTSW	1	119,984,137 (GRCm39)	missense	probably damaging	1.00
R5781:Sctr	UTSW	1	119,959,350 (GRCm39)	missense	probably damaging	0.99
R6333:Sctr	UTSW	1	119,984,182 (GRCm39)	missense	probably damaging	1.00
R7084:Sctr	UTSW	1	119,991,001 (GRCm39)	missense	possibly damaging	0.77
R7263:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7265:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7266:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7343:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R8063:Sctr	UTSW	1	119,991,005 (GRCm39)	missense	probably benign	0.09
R8914:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R9146:Sctr	UTSW	1	119,982,010 (GRCm39)	missense	probably damaging	1.00
R9391:Sctr	UTSW	1	119,983,178 (GRCm39)	missense	probably benign	0.00
R9495:Sctr	UTSW	1	119,959,403 (GRCm39)	critical splice donor site	probably null
X0067:Sctr	UTSW	1	119,935,029 (GRCm39)	missense	probably benign
Z1088:Sctr	UTSW	1	119,964,136 (GRCm39)	frame shift	probably null
Z1176:Sctr	UTSW	1	119,949,979 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTGCAACGTTGGAGCTAATG -3'
(R):5'- TGGATCCGACAGCTGATTGAG -3'

Sequencing Primer
(F):5'- CAACGTTGGAGCTAATGTTGGACAC -3'
(R):5'- ATCCGACAGCTGATTGAGTGTAC -3'

Posted On

2019-06-26